A32T (p.Ala32Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
A32T (p.Ala32Thr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available record places it in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs587778416
- ClinGen CA160234
- ClinVar RCV000121265
- TOPMed rs587778416
- not provided
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.07
- CADD 8.41
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: not provided (not specified)
- UniProt: Not provided
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available