A165T (p.Ala165Thr) variant of TYK2 (P29597)
A165T (p.Ala165Thr) 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 0.33 / 1. The record also includes population frequency data and structural context.
A165T (p.Ala165Thr) variant details
- p.Ala165Thr
- rs370420133
- ClinGen CA9193710
- ClinVar RCV001127809
- ESP rs370420133
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.39
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available