G56A (p.Gly56Ala) variant of MTHFR (P42898)
G56A (p.Gly56Ala) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- ExAC rs766295185
- gnomAD rs766295185
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.81
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available