F39C (p.Phe39Cys) variant of MMACHC (Q9Y4U1)
F39C (p.Phe39Cys) 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.
F39C (p.Phe39Cys) variant details
- p.Phe39Cys
- Ensembl rs1643638931
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.82
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available