V11G (p.Val11Gly) variant of IL7R (P16871)
V11G (p.Val11Gly) 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 0.32 / 1. The record also includes structural context.
V11G (p.Val11Gly) variant details
- p.Val11Gly
- rs539820821
- ClinGen CA359425803
- ClinVar RCV003020175
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.26
- EVE 0.14
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available