V364M (p.Val364Met) variant of CACNA2D2 (Q9NY47)
V364M (p.Val364Met) in CACNA2D2 (Q9NY47) 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 0.51 / 1. The record also includes population frequency data and structural context.
V364M (p.Val364Met) variant details
- p.Val364Met
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56565
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.35
- MetaLR 0.56
- MetaSVM -0.07
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available