R957Q (p.Arg957Gln) variant of CACNA2D2 (Q9NY47)
R957Q (p.Arg957Gln) 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 0.52 / 1. The record also includes population frequency data and structural context.
R957Q (p.Arg957Gln) variant details
- p.Arg957Gln
- rs1333604942
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56568
- gnomAD rs1333604942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.21
- MetaLR 0.52
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available