KPLCE

Chr 1

KPRP N-terminal and LCE C-terminal like protein

Also known as: C1orf68, LEP7, XP32

NCBI Gene: 100129271ENSG00000198854UniProt: Q5T750

Predicted to be involved in epidermis development. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 1.77
Clinical Summary— KPLCE
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
3 VUS of 3 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.77LOEUF
pLI 0.000
Z-score -0.29
OE 1.10 (0.68–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.70Z-score
OE missense 0.83 (0.71–0.97)
113 obs / 136.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.10 (0.68–1.77)
0≤0.351.4
Missense OE?0.83 (0.71–0.97)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 10 / 9.1Missense obs/exp: 113 / 136.1Syn Z: 0.16

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

VUS3
3
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
3
0
0
3
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total03003

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

10 pathogenic / likely-pathogenic (of 12) ClinVar copy-number / structural variants overlap KPLCE — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

KPLCE · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients