D49H (p.Asp49His) variant of KCNQ3 (O43525)
D49H (p.Asp49His) in KCNQ3 (O43525) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D49H (p.Asp49His) variant details
- p.Asp49His
- gnomAD rs886062693
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.43
- CADD 25.80
- PolyPhen-2 0.45
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available