M110L (p.Met110Leu) variant of MTHFR (P42898)
M110L (p.Met110Leu) 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.
M110L (p.Met110Leu) variant details
- p.Met110Leu
- TOPMed rs1314255798
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.39
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available