R535W (p.Arg535Trp) variant of MTHFR (P42898)
R535W (p.Arg535Trp) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R535W (p.Arg535Trp) variant details
- p.Arg535Trp
- rs760886915
- ClinGen CA595286
- NCI-TCGA Cosmic COSV5717
- cosmic curated COSV57171
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tu
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.59
- CADD 27.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)