E13A (p.Glu13Ala) variant of MMACHC (Q9Y4U1)
E13A (p.Glu13Ala) 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; Cobalamin C disease; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E13A (p.Glu13Ala) variant details
- p.Glu13Ala
- rs1010232462
- ClinGen CA21825934
- ClinVar RCV001863982
- ClinVar RCV005601809
- Uncertain significance
- not provided; Cobalamin C disease; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.25
- CADD 23.50
- ClinVar: Uncertain significance (not provided; Cobalamin C disease; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)