D57N (p.Asp57Asn) variant of MTHFR (P42898)
D57N (p.Asp57Asn) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- ExAC rs755932641
- TOPMed rs755932641
- gnomAD rs755932641
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.46
- CADD 26.50
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available