Q83K (p.Gln83Lys) variant of MMAA (Q8IVH4)
Q83K (p.Gln83Lys) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
Q83K (p.Gln83Lys) variant details
- p.Gln83Lys
- rs1727716552
- ClinGen CA358352494
- ClinVar RCV003309116
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.60
- MetaSVM -0.06
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)