S20T (p.Ser20Thr) variant of ABL1 (Tyrosine-protein kinase ABL1)
S20T (p.Ser20Thr) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- gnomAD 9-130835504-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.90
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.58
- Most common in the South Asian population (allele frequency 7.5e-05)
- Structural context available
- Literature evidence available