D32H (p.Asp32His) variant of KCNQ3 (O43525)
D32H (p.Asp32His) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- ExAC rs754272127
- gnomAD rs754272127
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.31
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available