I91V (p.Ile91Val) variant of MTHFR (P42898)
I91V (p.Ile91Val) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Homocystinuria due to methylene tetrahydrofolate reduct. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- rs761545364
- ClinGen CA595701
- ClinVar RCV002431252
- ClinVar RCV003102140
- Uncertain significance
- Inborn genetic diseases; Homocystinuria due to methylene tetrahydrofolate reduct
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.19
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases; Homocystinuria due to methylene tetrahy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)