H96Y (p.His96Tyr) variant of MTHFR (P42898)
H96Y (p.His96Tyr) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
H96Y (p.His96Tyr) variant details
- p.His96Tyr
- gnomAD rs1345151194
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.89
- CADD 24.60
- PolyPhen-2 0.33
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available