A53T (p.Ala53Thr) variant of TYK2 (P29597)
A53T (p.Ala53Thr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs55762744
- ClinGen CA9193876
- ClinVar RCV000441975
- ClinVar RCV000534611
- Benign
- not specified; not provided; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.46
- CADD 24.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Benign (not specified; not provided; Immunodeficiency 35)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.12)
- Structural context available