A62V (p.Ala62Val) variant of MMACHC (Q9Y4U1)
A62V (p.Ala62Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- gnomAD 1-45507459-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- CADD 25.10
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available