M110I (p.Met110Ile) variant of MTHFR (P42898)
M110I (p.Met110Ile) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M110I (p.Met110Ile) variant details
- p.Met110Ile
- rs781158269
- ClinGen CA595693
- ClinVar RCV000693573
- ClinVar RCV003411613
- Likely benign
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.55
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.16
- ClinVar: Likely benign (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)