S109F (p.Ser109Phe) variant of MTHFR (P42898)
S109F (p.Ser109Phe) in MTHFR (P42898) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
S109F (p.Ser109Phe) variant details
- p.Ser109Phe
- rs745779146
- ExAC rs745779146
- gnomAD rs745779146
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available