A45T (p.Ala45Thr) variant of KCNJ10 (P78508)
A45T (p.Ala45Thr) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; KCNJ10-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs750246232
- ClinGen CA1193292
- ClinVar RCV000558426
- ClinVar RCV001574872
- Uncertain significance
- not provided; KCNJ10-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; KCNJ10-related disorder; Inborn genetic diseases)
- 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)