R95G (p.Arg95Gly) variant of KCNQ3 (O43525)
R95G (p.Arg95Gly) in KCNQ3 (O43525) 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 0.60 / 1. The record also includes population frequency data and structural context.
R95G (p.Arg95Gly) variant details
- p.Arg95Gly
- rs1418381991
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10119
- gnomAD rs1418381991
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available