M74I (p.Met74Ile) variant of MMACHC (Q9Y4U1)
M74I (p.Met74Ile) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
M74I (p.Met74Ile) variant details
- p.Met74Ile
- rs772225967
- ClinGen CA827667
- ClinVar RCV001973606
- ExAC rs772225967
- Uncertain significance
- not provided; Inborn genetic diseases; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.24
- CADD 1.54
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)