C70Y (p.Cys70Tyr) variant of MMACHC (Q9Y4U1)
C70Y (p.Cys70Tyr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
C70Y (p.Cys70Tyr) variant details
- p.Cys70Tyr
- gnomAD 1-45507483-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.30
- CADD 7.02
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available