P6T (p.Pro6Thr) variant of KCNQ4 (P56696)
P6T (p.Pro6Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 1-40784109-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.30
- MetaLR 0.82
- MetaSVM 0.45
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available