R95C (p.Arg95Cys) variant of CACNA2D2 (Q9NY47)
R95C (p.Arg95Cys) 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 0.39 / 1. The record also includes population frequency data and structural context.
R95C (p.Arg95Cys) variant details
- p.Arg95Cys
- rs1456109864
- TOPMed rs1456109864
- gnomAD rs1456109864
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -1.16
- CADD 29.30
- PolyPhen-2 0.83
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available