R297C (p.Arg297Cys) variant of KCNJ10 (P78508)
R297C (p.Arg297Cys) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R297C (p.Arg297Cys) variant details
- p.Arg297Cys
- rs137853071
- ClinGen CA118813
- cosmic curated COSV63633
- ClinVar RCV000007893
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome;)
- 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)