K58Q (p.Lys58Gln) variant of MTHFR (P42898)
K58Q (p.Lys58Gln) 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.
K58Q (p.Lys58Gln) variant details
- p.Lys58Gln
- ExAC rs750677509
- gnomAD rs750677509
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.28
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available