D46N (p.Asp46Asn) variant of KCNJ10 (P78508)
D46N (p.Asp46Asn) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs141553756
- ClinGen CA1193291
- cosmic curated COSV10092
- ClinVar RCV000374787
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 22.90
- PolyPhen-2 0.51
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- 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)