C140R (p.Cys140Arg) variant of KCNJ10 (P78508)
C140R (p.Cys140Arg) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
C140R (p.Cys140Arg) variant details
- p.Cys140Arg
- rs137853068
- ClinGen CA118810
- ClinVar RCV000007890
- UniProt VAR 063061
- Pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (EAST syndrome)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Cited in: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by… (PMID 19289823)
- Cited in: Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). (PMID 20807765)