D46G (p.Asp46Gly) variant of MAOA (P21397)
D46G (p.Asp46Gly) in MAOA (P21397) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- rs201519600
- ClinGen CA358062
- ClinVar RCV000210598
- ClinVar RCV000513424
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.86
- MetaLR 0.88
- MetaSVM 0.94
- CADD 22.80
- PolyPhen-2 0.55
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- 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)