I95V (p.Ile95Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
I95V (p.Ile95Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I95V (p.Ile95Val) variant details
- p.Ile95Val
- ExAC rs780068977
- gnomAD rs780068977
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available