S103L (p.Ser103Leu) variant of MTHFR (P42898)
S103L (p.Ser103Leu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S103L (p.Ser103Leu) variant details
- p.Ser103Leu
- Ensembl rs1644380045
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.73
- CADD 29.00
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available