I125V (p.Ile125Val) variant of MTHFR (P42898)
I125V (p.Ile125Val) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I125V (p.Ile125Val) variant details
- p.Ile125Val
- ExAC rs762688654
- gnomAD rs762688654
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.30
- CADD 7.17
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available