V164L (p.Val164Leu) variant of TYK2 (P29597)
V164L (p.Val164Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
V164L (p.Val164Leu) variant details
- p.Val164Leu
- rs531355933
- ClinGen CA9193711
- ClinVar RCV001299251
- 1000Genomes rs531355933
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.10
- CADD 15.50
- PolyPhen-2 0.05
- SIFT 0.44
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available