P15L (p.Pro15Leu) variant of KCNQ4 (P56696)
P15L (p.Pro15Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- TOPMed rs1369988851
- gnomAD rs1369988851
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.44
- MetaLR 0.82
- MetaSVM 0.37
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.00017)
- Structural context available