P45A (p.Pro45Ala) variant of ABCC2 (Q92887)
P45A (p.Pro45Ala) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- gnomAD 10-99784707-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available