F26L (p.Phe26Leu) variant of MMACHC (Q9Y4U1)
F26L (p.Phe26Leu) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- ExAC rs770431439
- TOPMed rs770431439
- gnomAD rs770431439
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.80
- CADD 23.90
- PolyPhen-2 0.59
- SIFT 0.17
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available