G24D (p.Gly24Asp) variant of JAK3 (Tyrosine-protein kinase JAK3)
G24D (p.Gly24Asp) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- ExAC rs766866864
- gnomAD rs766866864
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.22
- CADD 20.30
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available