P86S (p.Pro86Ser) variant of TYK2 (P29597)
P86S (p.Pro86Ser) in TYK2 (P29597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P86S (p.Pro86Ser) variant details
- p.Pro86Ser
- ESP rs141466711
- ExAC rs141466711
- TOPMed rs141466711
- gnomAD rs141466711
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- CADD 21.50
- PolyPhen-2 0.24
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available