G36V (p.Gly36Val) variant of MTHFR (P42898)
G36V (p.Gly36Val) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- rs376266183
- ClinGen CA595743
- ClinVar RCV002604176
- ClinVar RCV005674997
- Uncertain significance
- Inborn genetic diseases; Homocystinuria due to methylene tetrahydrofolate reduct
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.16
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases; Homocystinuria due to methylene tetrahy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- 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)