R109W (p.Arg109Trp) variant of MAOA (P21397)
R109W (p.Arg109Trp) 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; Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R109W (p.Arg109Trp) variant details
- p.Arg109Trp
- rs140295792
- ClinGen CA10390761
- NCI-TCGA Cosmic COSV5864
- ClinVar RCV001907529
- Uncertain significance
- Inborn genetic diseases; not provided; Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.47
- MetaLR 0.77
- MetaSVM 0.13
- CADD 23.30
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.0065)
- 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)