G83A (p.Gly83Ala) variant of KCNJ10 (P78508)
G83A (p.Gly83Ala) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Pendred syndrome; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
G83A (p.Gly83Ala) variant details
- p.Gly83Ala
- rs17853258
- ClinGen CA1193266
- ClinVar RCV001922147
- ClinVar RCV002425172
- Uncertain significance
- Inborn genetic diseases; Pendred syndrome; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.63
- MetaLR 0.82
- MetaSVM 0.70
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Pendred syndrome; EAST syndrome)
- 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)