P5L (p.Pro5Leu) variant of KCNQ4 (P56696)
P5L (p.Pro5Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- TOPMed rs1422496526
- gnomAD rs1422496526
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.38
- MetaLR 0.83
- MetaSVM 0.40
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available