R70H (p.Arg70His) variant of KCNQ2 (O43526)
R70H (p.Arg70His) in KCNQ2 (O43526) 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 0.70 / 1. The record also includes population frequency data and structural context.
R70H (p.Arg70His) variant details
- p.Arg70His
- rs1233641462
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60432
- gnomAD rs1233641462
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.67
- CADD 27.10
- PolyPhen-2 0.79
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available