P988S (p.Pro988Ser) variant of SLC12A2 (P55011)
P988S (p.Pro988Ser) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Sensorineural hearing loss disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P988S (p.Pro988Ser) variant details
- p.Pro988Ser
- rs1581138965
- ClinGen CA360737997
- ClinVar RCV001249186
- ClinVar RCV002570394
- Pathogenic
- not provided; Sensorineural hearing loss disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.45
- AlphaMissense 0.38
- MetaLR 0.66
- MetaSVM 0.17
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Sensorineural hearing loss disorder)
- EBI: Pathogenic (in DFNA78)
- UniProt: Pathogenic (in DFNA78)
- Population evidence available
- Structural context available