Y52C (p.Tyr52Cys) variant of ABCC2 (Q92887)
Y52C (p.Tyr52Cys) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y52C (p.Tyr52Cys) variant details
- p.Tyr52Cys
- gnomAD 10-99784729-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available