R95H (p.Arg95His) variant of KCNQ3 (O43525)
R95H (p.Arg95His) 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 0.54 / 1. The record also includes population frequency data and structural context.
R95H (p.Arg95His) variant details
- p.Arg95His
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.53
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available