V83A (p.Val83Ala) variant of TYK2 (P29597)
V83A (p.Val83Ala) 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 0.33 / 1. The record also includes population frequency data and structural context.
V83A (p.Val83Ala) variant details
- p.Val83Ala
- rs1407281800
- ClinGen CA404020245
- ClinVar RCV001936082
- TOPMed rs1407281800
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available