M134I (p.Met134Ile) variant of MAOA (P21397)
M134I (p.Met134Ile) 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; Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M134I (p.Met134Ile) variant details
- p.Met134Ile
- rs771740634
- ClinGen CA10390768
- ClinVar RCV000692394
- ClinVar RCV004985077
- Uncertain significance
- Inborn genetic diseases; Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.55
- MetaLR 0.69
- MetaSVM 0.49
- PolyPhen-2 0.60
- SIFT 0.01
- EVE 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases; Brunner syndrome)
- 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)