F71L (p.Phe71Leu) variant of TYK2 (P29597)
F71L (p.Phe71Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- rs374071090
- ClinGen CA9193811
- ClinVar RCV000645233
- ESP rs374071090
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.11
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available