A195V (p.Ala195Val) variant of MTHFR (P42898)
A195V (p.Ala195Val) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
A195V (p.Ala195Val) variant details
- p.Ala195Val
- rs760161369
- ClinGen CA595628
- ClinVar RCV001353257
- ClinVar RCV004570861
- Pathogenic/Likely pathogenic
- Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.99
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neural tube defects, folate-sensitive; Homocystinuria due to met)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)