L45V (p.Leu45Val) variant of KCNQ3 (O43525)
L45V (p.Leu45Val) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- ExAC rs775400581
- TOPMed rs775400581
- gnomAD rs775400581
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.34
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available