R41Q (p.Arg41Gln) variant of MTHFR (P42898)
R41Q (p.Arg41Gln) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- cosmic curated COSV56741
- ExAC rs775972969
- TOPMed rs775972969
- gnomAD rs775972969
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available