L47P (p.Leu47Pro) variant of KCNQ4 (P56696)
L47P (p.Leu47Pro) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- rs1271250198
- ClinGen CA339885140
- ClinVar RCV000709614
- ClinVar RCV004588157
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- MetaLR 0.89
- MetaSVM 0.79
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0004)
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)