L193F (p.Leu193Phe) variant of MMACHC (Q9Y4U1)
L193F (p.Leu193Phe) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar 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 0.78 / 1. The record also includes population frequency data and structural context.
L193F (p.Leu193Phe) variant details
- p.Leu193Phe
- TOPMed rs1371224805
- gnomAD rs1371224805
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.86
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cobalamin C disease)
- UniProt: Uncertain significance (in MAHCC)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available