A49T (p.Ala49Thr) variant of MMACHC (Q9Y4U1)
A49T (p.Ala49Thr) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs775502093
- ClinGen CA827650
- ClinVar RCV002301124
- ExAC rs775502093
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)