PLEKHS1

Chr 10

pleckstrin homology domain containing S1

Also known as: C10orf81, HEL185

NCBI Gene: 79949ENSG00000148735UniProt: Q5SXH7

ResearchGenerating clinical summary…
1
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.65
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.65LOEUF
pLI 0.000
Z-score -1.00
OE 1.22 (0.91–1.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.78Z-score
OE missense 0.86 (0.77–0.96)
207 obs / 241.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.22 (0.91–1.65)
0≤0.351.4
Missense OE?0.86 (0.77–0.96)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 30 / 24.6Missense obs/exp: 207 / 241.0Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLEKHS1 · protein map & ClinVar variants

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

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