V15F (p.Val15Phe) variant of TYK2 (P29597)
V15F (p.Val15Phe) 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 0.13 / 1. The record also includes population frequency data and structural context.
V15F (p.Val15Phe) variant details
- p.Val15Phe
- rs374780145
- ClinGen CA404023165
- ClinVar RCV000696218
- ESP rs374780145
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.18
- CADD 1.51
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available