Y81C (p.Tyr81Cys) variant of JAK1 (Tyrosine-protein kinase JAK1)
Y81C (p.Tyr81Cys) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of JAK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y81C (p.Tyr81Cys) variant details
- p.Tyr81Cys
- rs529625257
- ClinGen CA340679148
- ClinVar RCV003399797
- 1000Genomes rs529625257
- Uncertain significance
- JAK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.61
- CADD 24.10
- PolyPhen-2 0.75
- SIFT 0.06
- ClinVar: Uncertain significance (JAK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available