A147D (p.Ala147Asp) variant of TYK2 (P29597)
A147D (p.Ala147Asp) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A147D (p.Ala147Asp) variant details
- p.Ala147Asp
- ESP rs150331673
- ExAC rs150331673
- TOPMed rs150331673
- gnomAD rs150331673
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.38
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available