R27Q (p.Arg27Gln) variant of KCNJ10 (P78508)
R27Q (p.Arg27Gln) 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; Inborn genetic diseases; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- rs776766074
- ClinGen CA1193299
- ClinVar RCV001304284
- ClinVar RCV002539549
- Uncertain significance
- EAST syndrome; Inborn genetic diseases; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 19.70
- PolyPhen-2 0.06
- SIFT 0.16
- ClinVar: Uncertain significance (EAST syndrome; Inborn genetic diseases; Autosomal recessive nons)
- 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)