K12I (p.Lys12Ile) variant of ABL1 (Tyrosine-protein kinase ABL1)
K12I (p.Lys12Ile) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K12I (p.Lys12Ile) variant details
- p.Lys12Ile
- gnomAD 9-130835481-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.50
- MetaLR 0.32
- MetaSVM -0.34
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available