G87D (p.Gly87Asp) variant of MTHFR (P42898)
G87D (p.Gly87Asp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G87D (p.Gly87Asp) variant details
- p.Gly87Asp
- rs145302631
- ClinGen CA595703
- ClinVar RCV002426327
- ClinVar RCV003102025
- Uncertain significance
- Inborn genetic diseases; Homocystinuria due to methylene tetrahydrofolate reduct
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.78
- CADD 24.20
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Homocystinuria due to methylene tetrahy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)