R36H (p.Arg36His) variant of KCNJ10 (P78508)
R36H (p.Arg36His) 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; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs779913708
- ClinGen CA1193296
- cosmic curated COSV10529
- ClinVar RCV001361621
- Uncertain significance
- EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)