R51L (p.Arg51Leu) variant of MTHFR (P42898)
R51L (p.Arg51Leu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- cosmic curated COSV56738
- 1000Genomes rs201618781
- ESP rs201618781
- ExAC rs201618781
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.67
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available