S23I (p.Ser23Ile) variant of MTHFR (P42898)
S23I (p.Ser23Ile) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S23I (p.Ser23Ile) variant details
- p.Ser23Ile
- ExAC rs777286995
- TOPMed rs777286995
- gnomAD rs777286995
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.30
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available