P15T (p.Pro15Thr) variant of KCNQ4 (P56696)
P15T (p.Pro15Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 1-40784136-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.41
- MetaLR 0.78
- MetaSVM 0.35
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available