L15S (p.Leu15Ser) variant of MTHFR (P42898)
L15S (p.Leu15Ser) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L15S (p.Leu15Ser) variant details
- p.Leu15Ser
- TOPMed rs1417143049
- gnomAD rs1417143049
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.24
- CADD 3.90
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available