H234L (p.His234Leu) variant of KCNQ4 (P56696)
H234L (p.His234Leu) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bilateral sensorineural hearing impairment; not provided; Autosomal dominant non. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
H234L (p.His234Leu) variant details
- p.His234Leu
- rs1064796365
- ClinGen CA339894852
- ClinVar RCV001730850
- ClinVar RCV005414608
- Pathogenic/Likely pathogenic
- Bilateral sensorineural hearing impairment; not provided; Autosomal dominant non
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- MetaLR 0.92
- MetaSVM 1.03
- CADD 29.70
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Bilateral sensorineural hearing impairment; not provided; Autoso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available