A36D (p.Ala36Asp) variant of KCNQ3 (O43525)
A36D (p.Ala36Asp) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- Ensembl rs1822523352
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.41
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available