E106V (p.Glu106Val) variant of MTHFR (P42898)
E106V (p.Glu106Val) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E106V (p.Glu106Val) variant details
- p.Glu106Val
- Ensembl rs756875135
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- CADD 24.20
- PolyPhen-2 0.13
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available