V21A (p.Val21Ala) variant of IL2RG (P31785)
V21A (p.Val21Ala) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs376612175
- ClinGen CA330970880
- ClinVar RCV001057331
- Ensembl rs376612175
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.09
- MetaLR 0.66
- MetaSVM -0.05
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.36
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)