D26Y (p.Asp26Tyr) variant of MCCC2 (Q9HCC0)
D26Y (p.Asp26Tyr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D26Y (p.Asp26Tyr) variant details
- p.Asp26Tyr
- gnomAD 5-71587501-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.79
- CADD 29.40
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available