A18S (p.Ala18Ser) variant of CACNA1D (Q01668)
A18S (p.Ala18Ser) in CACNA1D (Q01668) 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 0.39 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- NCI-TCGA Cosmic COSV9985
- cosmic curated COSV99857
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.27
- MetaLR 0.68
- MetaSVM -0.29
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available