D36Y (p.Asp36Tyr) variant of MCCC2 (Q9HCC0)
D36Y (p.Asp36Tyr) in MCCC2 (Q9HCC0) 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, published literature, and structural context.
D36Y (p.Asp36Tyr) variant details
- p.Asp36Tyr
- gnomAD 5-71587531-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.78
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available