F72L (p.Phe72Leu) variant of MMADHC (Q9H3L0)
F72L (p.Phe72Leu) in MMADHC (Q9H3L0) 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.
F72L (p.Phe72Leu) variant details
- p.Phe72Leu
- TOPMed rs1227369889
- gnomAD rs1227369889
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.88
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available