T27K (p.Thr27Lys) variant of KCNQ4 (P56696)
T27K (p.Thr27Lys) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- gnomAD 1-40784173-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.36
- MetaLR 0.81
- MetaSVM 0.29
- CADD 22.10
- PolyPhen-2 0.17
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available