V575M (p.Val575Met) variant of CACNA2D2 (Q9NY47)
V575M (p.Val575Met) 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 0.42 / 1. The record also includes population frequency data and structural context.
V575M (p.Val575Met) variant details
- p.Val575Met
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- MetaLR 0.06
- MetaSVM -1.11
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available