A43T (p.Ala43Thr) variant of CACNA1S (Q13698)
A43T (p.Ala43Thr) in CACNA1S (Q13698) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- NCI-TCGA Cosmic COSV6294
- cosmic curated COSV62941
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.16
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available