P42T (p.Pro42Thr) variant of TYK2 (P29597)
P42T (p.Pro42Thr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- rs147251502
- ClinGen CA9193882
- ClinVar RCV000519745
- ClinVar RCV000800934
- Uncertain significance
- not provided; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.05
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.001)
- Structural context available