F26V (p.Phe26Val) variant of MMACHC (Q9Y4U1)
F26V (p.Phe26Val) 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 and structural context.
F26V (p.Phe26Val) variant details
- p.Phe26Val
- TOPMed rs1318571220
- gnomAD rs1318571220
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.93
- CADD 29.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available