A62D (p.Ala62Asp) variant of MMACHC (Q9Y4U1)
A62D (p.Ala62Asp) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A62D (p.Ala62Asp) variant details
- p.Ala62Asp
- gnomAD 1-45507459-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.94
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available