D38H (p.Asp38His) variant of MTHFR (P42898)
D38H (p.Asp38His) in MTHFR (P42898) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neural tube defects, folate-sensitive; Thrombophilia due to thrombin defect; Hom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- ExAC rs761916311
- TOPMed rs761916311
- gnomAD rs761916311
- Uncertain significance
- Neural tube defects, folate-sensitive; Thrombophilia due to thrombin defect; Hom
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.49
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Uncertain significance (Neural tube defects, folate-sensitive; Thrombophilia due to thro)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available