E980K (p.Glu980Lys) variant of SLC12A2 (P55011)
E980K (p.Glu980Lys) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hearing loss, autosomal dominant 78. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
E980K (p.Glu980Lys) variant details
- p.Glu980Lys
- rs1763563407
- ClinGen CA360737942
- ClinVar RCV001264772
- UniProt VAR 085089
- Pathogenic
- Hearing loss, autosomal dominant 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.20
- MetaLR 0.30
- MetaSVM -0.48
- PolyPhen-2 0.68
- SIFT 0.39
- MutPred 0.36
- ClinVar: Pathogenic (Hearing loss, autosomal dominant 78)
- EBI: Pathogenic (in DELMNES)
- UniProt: Pathogenic (in DELMNES)
- Structural context available
- Cited in: SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. (PMID 32658972)