I77V (p.Ile77Val) variant of MTHFR (P42898)
I77V (p.Ile77Val) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- gnomAD rs1347839321
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.26
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available