T6A (p.Thr6Ala) variant of IL7R (P16871)
T6A (p.Thr6Ala) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- rs1580848036
- ClinGen CA359425654
- ClinVar RCV001372925
- Ensembl rs1580848036
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.08
- MetaLR 0.35
- MetaSVM -0.44
- PolyPhen-2 0.18
- SIFT 0.28
- MutPred 0.23
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available