C51A (p.Cys51Ala) variant of MMAA (Q8IVH4)
C51A (p.Cys51Ala) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data, published literature, and structural context.
C51A (p.Cys51Ala) variant details
- p.Cys51Ala
- rs2546335284
- ClinGen CA358350954
- ClinVar RCV003131595
- ClinVar RCV006363413
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)