C14F (p.Cys14Phe) variant of MTHFR (P42898)
C14F (p.Cys14Phe) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
C14F (p.Cys14Phe) variant details
- p.Cys14Phe
- Ensembl rs1644428085
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.18
- CADD 1.85
- PolyPhen-2 0.04
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available