P94R (p.Pro94Arg) variant of TYK2 (P29597)
P94R (p.Pro94Arg) 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.
P94R (p.Pro94Arg) variant details
- p.Pro94Arg
- rs765557425
- ClinGen CA404020033
- ClinVar RCV001295736
- ExAC rs765557425
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.09
- CADD 16.90
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available