R31S (p.Arg31Ser) variant of MTHFR (P42898)
R31S (p.Arg31Ser) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- gnomAD rs762296846
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.54
- CADD 22.80
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available