V97I (p.Val97Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
V97I (p.Val97Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V97I (p.Val97Ile) variant details
- p.Val97Ile
- rs781744573
- ClinGen CA893197
- ClinVar RCV002711154
- ExAC rs781744573
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- CADD 9.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available