D100E (p.Asp100Glu) variant of KCNJ10 (P78508)
D100E (p.Asp100Glu) 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 0.07 / 1. The record also includes population frequency data and published literature.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- rs139069413
- ClinGen CA1193259
- cosmic curated COSV10467
- ClinVar RCV000503569
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0718
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)