A44V (p.Ala44Val) variant of ABCC2 (Q92887)
A44V (p.Ala44Val) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD rs1395260791
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available