A167V (p.Ala167Val) variant of KCNJ10 (P78508)
A167V (p.Ala167Val) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A167V (p.Ala167Val) variant details
- p.Ala167Val
- rs137853070
- ClinGen CA118812
- cosmic curated COSV10092
- ClinVar RCV000007892
- Pathogenic
- not provided; EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (not provided; EAST syndrome; Autosomal recessive nonsyndromic he)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Population evidence available
- Structural context available
- 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)