A113P (p.Ala113Pro) variant of MTHFR (P42898)
A113P (p.Ala113Pro) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MTHFRD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A113P (p.Ala113Pro) variant details
- p.Ala113Pro
- ESP rs147257424
- ExAC rs147257424
- TOPMed rs147257424
- gnomAD rs147257424
- Pathogenic
- in MTHFRD
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 27.20
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available