V30M (p.Val30Met) variant of CACNA1E (Q15878)
V30M (p.Val30Met) 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 0.44 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available