V11G (p.Val11Gly) variant of IRAK4 (Q9NWZ3)
V11G (p.Val11Gly) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
V11G (p.Val11Gly) variant details
- p.Val11Gly
- rs1940363408
- ClinGen CA384464395
- ClinVar RCV001234554
- Ensembl rs1940363408
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.90
- MetaLR 0.36
- MetaSVM -0.26
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available