A2T (p.Ala2Thr) variant of KCNQ4 (P56696)
A2T (p.Ala2Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1359438636
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.37
- MetaLR 0.77
- MetaSVM 0.41
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available