R28Q (p.Arg28Gln) variant of KCNJ10 (P78508)
R28Q (p.Arg28Gln) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs766560083
- ClinGen CA31471500
- cosmic curated COSV10467
- ClinVar RCV001341861
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.26
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome;)
- 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)