P291L (p.Pro291Leu) variant of KCNQ4 (P56696)
P291L (p.Pro291Leu) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P291L (p.Pro291Leu) variant details
- p.Pro291Leu
- rs797044970
- ClinGen CA347354
- ClinVar RCV000655881
- ClinVar RCV002510811
- Pathogenic/Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 17.20
- SIFT 0.35
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 2A; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)