S20F (p.Ser20Phe) variant of ABL1 (Tyrosine-protein kinase ABL1)
S20F (p.Ser20Phe) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- gnomAD rs1306763809
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.24
- MetaLR 0.20
- MetaSVM -0.68
- CADD 20.10
- PolyPhen-2 0.03
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available