P86T (p.Pro86Thr) variant of TYK2 (P29597)
P86T (p.Pro86Thr) 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 0.59 / 1. The record also includes population frequency data and structural context.
P86T (p.Pro86Thr) variant details
- p.Pro86Thr
- rs141466711
- ClinGen CA9193802
- ClinVar RCV000645235
- ESP rs141466711
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.62
- CADD 25.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available