K164I (p.Lys164Ile) variant of IL2RG (P31785)
K164I (p.Lys164Ile) 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 0.45 / 1. The record also includes published literature and structural context.
K164I (p.Lys164Ile) variant details
- p.Lys164Ile
- rs1009255987
- ClinGen CA413496431
- ClinVar RCV003030559
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.39
- PolyPhen-2 0.00
- SIFT 0.58
- EVE 0.21
- 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)