F18C (p.Phe18Cys) variant of MMADHC (Q9H3L0)
F18C (p.Phe18Cys) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F18C (p.Phe18Cys) variant details
- p.Phe18Cys
- TOPMed rs1682805481
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.81
- CADD 24.80
- PolyPhen-2 0.53
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available