V93A (p.Val93Ala) variant of MTHFR (P42898)
V93A (p.Val93Ala) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V93A (p.Val93Ala) variant details
- p.Val93Ala
- Ensembl rs1644380829
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.93
- CADD 26.70
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available