A852V (p.Ala852Val) variant of CACNA2D2 (Q9NY47)
A852V (p.Ala852Val) 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 0.57 / 1. The record also includes population frequency data and structural context.
A852V (p.Ala852Val) variant details
- p.Ala852Val
- rs1298263050
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56563
- gnomAD rs1298263050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.48
- MetaLR 0.40
- MetaSVM -0.17
- CADD 29.40
- PolyPhen-2 0.28
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available