V117M (p.Val117Met) variant of MTHFR (P42898)
V117M (p.Val117Met) 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.
V117M (p.Val117Met) variant details
- p.Val117Met
- gnomAD rs1200746244
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.48
- CADD 16.90
- PolyPhen-2 0.41
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available