A38S (p.Ala38Ser) variant of CACNA1E (Q15878)
A38S (p.Ala38Ser) in CACNA1E (Q15878) 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 0.33 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- NCI-TCGA Cosmic COSV6238
- cosmic curated COSV62387
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.29
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available