A2P (p.Ala2Pro) variant of KCNQ4 (P56696)
A2P (p.Ala2Pro) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- TOPMed rs1359438636
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.39
- MetaLR 0.80
- MetaSVM 0.44
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available