P42A (p.Pro42Ala) variant of TYK2 (P29597)
P42A (p.Pro42Ala) 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 0.26 / 1. The record also includes population frequency data and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- rs147251502
- ClinGen CA9193883
- ClinVar RCV001242308
- ESP rs147251502
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.06
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available