M111I (p.Met111Ile) variant of STAT6 (P42226)
M111I (p.Met111Ile) in STAT6 (P42226) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M111I (p.Met111Ile) variant details
- p.Met111Ile
- rs1165529137
- ClinGen CA385401088
- ClinVar RCV002714364
- TOPMed rs1165529137
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.32
- MetaLR 0.36
- MetaSVM -0.65
- PolyPhen-2 0.00
- SIFT 0.58
- MutPred 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)