R18W (p.Arg18Trp) variant of KCNJ10 (P78508)
R18W (p.Arg18Trp) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- rs138457635
- ClinGen CA315261
- cosmic curated COSV10092
- ClinVar RCV000464419
- Conflicting interpretations
- Inborn genetic diseases; not provided; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 27.70
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Autosomal recessive nonsy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)