A121T (p.Ala121Thr) variant of TYK2 (P29597)
A121T (p.Ala121Thr) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A121T (p.Ala121Thr) variant details
- p.Ala121Thr
- cosmic curated COSV10608
- ExAC rs779331912
- TOPMed rs779331912
- gnomAD rs779331912
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.05
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available