R51Q (p.Arg51Gln) variant of MTHFR (P42898)
R51Q (p.Arg51Gln) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- cosmic curated COSV56742
- 1000Genomes rs201618781
- ESP rs201618781
- ExAC rs201618781
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.25
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available