P2S (p.Pro2Ser) variant of TYK2 (P29597)
P2S (p.Pro2Ser) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- TOPMed rs1004722306
- gnomAD rs1004722306
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.12
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available