D100E (p.Asp100Glu) variant of MTHFR (P42898)
D100E (p.Asp100Glu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- Ensembl rs1570492659
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.36
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available