P68A (p.Pro68Ala) variant of TYK2 (P29597)
P68A (p.Pro68Ala) 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 0.37 / 1. The record also includes structural context.
P68A (p.Pro68Ala) variant details
- p.Pro68Ala
- rs1045396233
- ClinGen CA404020580
- ClinVar RCV002001705
- Ensembl rs1045396233
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.18
- MetaLR 0.22
- MetaSVM -0.62
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available