P291S (p.Pro291Ser) variant of KCNQ4 (P56696)
P291S (p.Pro291Ser) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P291S (p.Pro291Ser) variant details
- p.Pro291Ser
- rs797044969
- ClinGen CA347413
- ClinVar RCV000655880
- Ensembl rs797044969
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)