R258C (p.Arg258Cys) variant of CACNA2D2 (Q9NY47)
R258C (p.Arg258Cys) 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 0.49 / 1. The record also includes population frequency data and structural context.
R258C (p.Arg258Cys) variant details
- p.Arg258Cys
- rs770337861
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56566
- ExAC rs770337861
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.42
- MetaLR 0.14
- MetaSVM -0.80
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available