D17Y (p.Asp17Tyr) variant of KCNQ3 (O43525)
D17Y (p.Asp17Tyr) 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 0.48 / 1. The record also includes population frequency data and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- gnomAD rs1355500787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available