R41W (p.Arg41Trp) variant of MTHFR (P42898)
R41W (p.Arg41Trp) in MTHFR (P42898) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs749729349
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- ExAC rs749729349
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.53
- CADD 28.70
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available