SCLT1

Chr 4

sodium channel and clathrin linker 1

Also known as: CAP-1A, CAP1A

NCBI Gene: 132320ENSG00000151466UniProt: Q96NL6

This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneReviewsResearchGenerating clinical summary…
1
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
DN
Mechanism· predicted
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GeneReview available — SCLT1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.18
OE 0.66 (0.50–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.27Z-score
OE missense 1.04 (0.95–1.14)
341 obs / 327.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.66 (0.50–0.89)
0≤0.351.4
Missense OE?1.04 (0.95–1.14)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 32 / 48.4Missense obs/exp: 341 / 327.3Syn Z: -0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCLT1 · 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