A19T (p.Ala19Thr) variant of TYK2 (P29597)
A19T (p.Ala19Thr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs755381338
- ClinGen CA305220345
- ClinVar RCV001346268
- Ensembl rs755381338
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.03
- CADD 5.54
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available