S103P (p.Ser103Pro) variant of MTHFR (P42898)
S103P (p.Ser103Pro) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S103P (p.Ser103Pro) variant details
- p.Ser103Pro
- TOPMed rs1644380115
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.72
- CADD 28.30
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available