S20T (p.Ser20Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
S20T (p.Ser20Thr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- rs199773433
- ClinGen CA160237
- ClinVar RCV000121266
- ClinVar RCV004019683
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)