L146V (p.Leu146Val) variant of ABCC4 (O15439)
L146V (p.Leu146Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
L146V (p.Leu146Val) variant details
- p.Leu146Val
- TOPMed rs1430939668
- gnomAD rs1430939668
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 15.20
- PolyPhen-2 0.31
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)