R266Q (p.Arg266Gln) variant of CACNA2D2 (Q9NY47)
R266Q (p.Arg266Gln) 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.
R266Q (p.Arg266Gln) variant details
- p.Arg266Gln
- rs1288650707
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56564
- Ensembl rs1288650707
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.03
- CADD 24.50
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available