T7I (p.Thr7Ile) variant of IL7R (P16871)
T7I (p.Thr7Ile) in IL7R (P16871) 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 0.38 / 1. The record also includes published literature and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- rs1162451134
- ClinGen CA359425714
- ClinVar RCV003374096
- gnomAD rs1162451134
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.70
- PolyPhen-2 0.03
- SIFT 0.02
- EVE 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)