S22I (p.Ser22Ile) variant of ABL1 (Tyrosine-protein kinase ABL1)
S22I (p.Ser22Ile) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- gnomAD 9-130835511-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.35
- MetaLR 0.24
- MetaSVM -0.84
- CADD 20.70
- PolyPhen-2 0.60
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available