R65H (p.Arg65His) variant of KCNJ10 (P78508)
R65H (p.Arg65His) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
R65H (p.Arg65His) variant details
- p.Arg65His
- rs137853066
- NCI-TCGA Cosmic COSV1044
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63635
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Population evidence available