V152A (p.Val152Ala) variant of IL2RG (P31785)
V152A (p.Val152Ala) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
V152A (p.Val152Ala) variant details
- p.Val152Ala
- rs193922348
- ClinGen CA260413
- ClinVar RCV000030055
- Ensembl rs193922348
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.71
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)