F39S (p.Phe39Ser) variant of MMACHC (Q9Y4U1)
F39S (p.Phe39Ser) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
F39S (p.Phe39Ser) variant details
- p.Phe39Ser
- Ensembl rs1643638931
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.82
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available