S94G (p.Ser94Gly) variant of MAOA (P21397)
S94G (p.Ser94Gly) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. 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.
S94G (p.Ser94Gly) variant details
- p.Ser94Gly
- rs2033551853
- ClinGen CA413004702
- ClinVar RCV001765305
- ClinVar RCV002540366
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.62
- PolyPhen-2 0.01
- SIFT 0.38
- EVE 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)