A62T (p.Ala62Thr) variant of MMACHC (Q9Y4U1)
A62T (p.Ala62Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- Ensembl rs1570829811
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.74
- CADD 22.80
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available