R258L (p.Arg258Leu) variant of CACNA2D2 (Q9NY47)
R258L (p.Arg258Leu) 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.
R258L (p.Arg258Leu) variant details
- p.Arg258Leu
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56567
- NCI-TCGA Cosmic COSV9981
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.39
- MetaLR 0.09
- MetaSVM -1.02
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available