T27S (p.Thr27Ser) variant of KCNQ4 (P56696)
T27S (p.Thr27Ser) 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, published literature, and structural context.
T27S (p.Thr27Ser) variant details
- p.Thr27Ser
- gnomAD 1-40784172-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.35
- MetaLR 0.81
- MetaSVM 0.54
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available