R27W (p.Arg27Trp) variant of KCNJ10 (P78508)
R27W (p.Arg27Trp) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- rs769464065
- ClinGen CA1193300
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63634
- Uncertain significance
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Pendred syndrome; Autosomal recessive nonsyndromic hearing loss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)