M58T (p.Met58Thr) variant of MMACHC (Q9Y4U1)
M58T (p.Met58Thr) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M58T (p.Met58Thr) variant details
- p.Met58Thr
- rs756713628
- ClinGen CA827660
- ClinVar RCV002509971
- ClinVar RCV004958562
- Uncertain significance
- Cobalamin C disease; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.66
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 0.47
- SIFT 0.04
- EVE 0.34
- ClinVar: Uncertain significance (Cobalamin C disease; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)