P120Q (p.Pro120Gln) variant of TYK2 (P29597)
P120Q (p.Pro120Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
P120Q (p.Pro120Gln) variant details
- p.Pro120Gln
- ExAC rs758463317
- TOPMed rs758463317
- gnomAD rs758463317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.16
- CADD 19.40
- PolyPhen-2 0.11
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available