F549L (p.Phe549Leu) variant of KCNQ4 (P56696)
F549L (p.Phe549Leu) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F549L (p.Phe549Leu) variant details
- p.Phe549Leu
- gnomAD rs1362729181
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.85
- MetaLR 0.40
- MetaSVM -0.18
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available