I60V (p.Ile60Val) variant of TYK2 (P29597)
I60V (p.Ile60Val) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- ExAC rs755663053
- TOPMed rs755663053
- gnomAD rs755663053
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.06
- CADD 1.14
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available