M1? variant of MTHFR (P42898)
M1? in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes population frequency data, published literature, and structural context.
M1? variant details
- rs373076763
- ClinGen CA595764
- cosmic curated COSV56742
- ClinVar RCV000594799
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)