L26P (p.Leu26Pro) variant of KCNQ4 (P56696)
L26P (p.Leu26Pro) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- gnomAD 1-40784170-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.43
- MetaLR 0.91
- MetaSVM 0.73
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available