D981Y (p.Asp981Tyr) variant of SLC12A2 (P55011)
D981Y (p.Asp981Tyr) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; association in the context of Hearing loss; Hearing loss, autosomal dominant 78. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
D981Y (p.Asp981Tyr) variant details
- p.Asp981Tyr
- rs1581138944
- ClinGen CA360737952
- ClinVar RCV000991281
- ClinVar RCV001264768
- Pathogenic; association
- Hearing loss; Hearing loss, autosomal dominant 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.20
- MetaLR 0.62
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.32
- ClinVar: Pathogenic; association (Hearing loss; Hearing loss, autosomal dominant 78)
- EBI: Pathogenic (in DFNA78)
- UniProt: Pathogenic (in DFNA78)
- Structural context available
- Cited in: Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. (PMID 32294086)
- Cited in: SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. (PMID 32658972)