P14L (p.Pro14Leu) variant of KCNQ4 (P56696)
P14L (p.Pro14Leu) 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 and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- Ensembl rs1013934456
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.30
- MetaLR 0.82
- MetaSVM 0.40
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available