P117S (p.Pro117Ser) variant of TYK2 (P29597)
P117S (p.Pro117Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
P117S (p.Pro117Ser) variant details
- p.Pro117Ser
- rs141864691
- ClinGen CA305209442
- cosmic curated COSV53389
- ClinVar RCV000701408
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.09
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available