A23S (p.Ala23Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
A23S (p.Ala23Ser) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- ExAC rs753974832
- TOPMed rs753974832
- gnomAD rs753974832
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.23
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available