F18L (p.Phe18Leu) variant of MMADHC (Q9H3L0)
F18L (p.Phe18Leu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- ExAC rs768073505
- TOPMed rs768073505
- gnomAD rs768073505
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.29
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available