I48V (p.Ile48Val) variant of ABL2 (Tyrosine-protein kinase ABL2)
I48V (p.Ile48Val) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- gnomAD rs1396896893
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.17
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available