E22D (p.Glu22Asp) variant of CACNA1S (Q13698)
E22D (p.Glu22Asp) 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 0.19 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- NCI-TCGA Cosmic COSV6294
- cosmic curated COSV62944
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- CADD 11.00
- PolyPhen-2 0.10
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available