M145V (p.Met145Val) variant of IL2RG (P31785)
M145V (p.Met145Val) 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 0.47 / 1. The record also includes published literature and structural context.
M145V (p.Met145Val) variant details
- p.Met145Val
- rs1602289401
- ClinGen CA413496568
- ClinVar RCV000812128
- Ensembl rs1602289401
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM -0.27
- PolyPhen-2 0.02
- SIFT 0.34
- EVE 0.11
- 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)