V15I (p.Val15Ile) variant of TYK2 (P29597)
V15I (p.Val15Ile) 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 0.06 / 1. The record also includes population frequency data and structural context.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- rs374780145
- ClinGen CA9193897
- ClinVar RCV001887403
- ESP rs374780145
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- REVEL 0.07
- CADD 0.35
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available