K48R (p.Lys48Arg) variant of MTHFR (P42898)
K48R (p.Lys48Arg) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- TOPMed rs992117198
- gnomAD rs992117198
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.71
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available