I119V (p.Ile119Val) variant of MAOA (P21397)
I119V (p.Ile119Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
I119V (p.Ile119Val) variant details
- p.Ile119Val
- rs1252486956
- ClinGen CA413004880
- ClinVar RCV002817570
- gnomAD rs1252486956
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0634
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.97
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- 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)