N590S (p.Asn590Ser) variant of ABCC1 (P33527)
N590S (p.Asn590Ser) in ABCC1 (P33527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hearing loss, autosomal dominant 77. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N590S (p.Asn590Ser) variant details
- p.Asn590Ser
- rs199797323
- ClinGen CA7924021
- ClinVar RCV001194461
- 1000Genomes rs199797323
- Pathogenic
- Hearing loss, autosomal dominant 77
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.31
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Hearing loss, autosomal dominant 77)
- EBI: Pathogenic (in DFNA77)
- UniProt: Pathogenic (in DFNA77)
- Population evidence available
- Structural context available
- Cited in: Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. (PMID 31273342)