K105R (p.Lys105Arg) variant of MTHFR (P42898)
K105R (p.Lys105Arg) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K105R (p.Lys105Arg) variant details
- p.Lys105Arg
- ExAC rs779696019
- TOPMed rs779696019
- gnomAD rs779696019
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.68
- CADD 25.50
- PolyPhen-2 0.85
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available