P6L (p.Pro6Leu) variant of KCNQ4 (P56696)
P6L (p.Pro6Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- TOPMed rs1478347910
- gnomAD rs1478347910
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.38
- MetaLR 0.79
- MetaSVM 0.40
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00011)
- Structural context available