V164M (p.Val164Met) variant of TYK2 (P29597)
V164M (p.Val164Met) 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 0.34 / 1. The record also includes population frequency data and structural context.
V164M (p.Val164Met) variant details
- p.Val164Met
- rs531355933
- ClinGen CA9193712
- cosmic curated COSV53389
- ClinVar RCV001370170
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.17
- CADD 22.20
- PolyPhen-2 0.47
- SIFT 0.08
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available