P194H (p.Pro194His) variant of KCNJ10 (P78508)
P194H (p.Pro194His) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P194H (p.Pro194His) variant details
- p.Pro194His
- rs137853073
- ClinGen CA254186
- ClinVar RCV000007895
- ClinVar RCV005042011
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 24.10
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged… (PMID 19426954)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)