G384V (p.Gly384Val) variant of STAT1 (P42224)
G384V (p.Gly384Val) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
G384V (p.Gly384Val) variant details
- p.Gly384Val
- rs796065052
- ClinGen CA349919141
- ClinVar RCV003018856
- Uncertain significance
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Uncertain significance (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance (in IMD31C)
- UniProt: Uncertain significance (in IMD31C)
- Structural context available