D32Y (p.Asp32Tyr) variant of KCNQ3 (O43525)
D32Y (p.Asp32Tyr) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- ExAC rs754272127
- gnomAD rs754272127
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 3.4e-05)
- Structural context available