V2A (p.Val2Ala) variant of MTHFR (P42898)
V2A (p.Val2Ala) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- TOPMed rs1332859061
- gnomAD rs1332859061
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.49
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available