I70V (p.Ile70Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
I70V (p.Ile70Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- ExAC rs781717039
- gnomAD rs781717039
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available