R65C (p.Arg65Cys) variant of KCNJ10 (P78508)
R65C (p.Arg65Cys) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 and published literature.
R65C (p.Arg65Cys) variant details
- p.Arg65Cys
- rs387906834
- ClinGen CA129068
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63633
- Likely pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (EAST syndrome)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Population evidence available
- Cited in: KCNJ10 mutations disrupt function in patients with EAST syndrome. (PMID 21849804)
- Cited in: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by… (PMID 19289823)