L281S (p.Leu281Ser) variant of KCNQ4 (P56696)
L281S (p.Leu281Ser) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal dominant nonsyndromic hearing loss 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L281S (p.Leu281Ser) variant details
- p.Leu281Ser
- rs80358278
- ClinGen CA340537
- ClinVar RCV000006624
- ClinVar RCV001567939
- Pathogenic
- not provided; Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic (in DFNA2A)
- UniProt: Pathogenic (in DFNA2A)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. (PMID 10571947)
- Cited in: Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. (PMID 20966080)