R36C (p.Arg36Cys) variant of KCNJ10 (P78508)
R36C (p.Arg36Cys) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- rs1256202581
- ClinGen CA343230271
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63632
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available