S35C (p.Ser35Cys) variant of ABL1 (Tyrosine-protein kinase ABL1)
S35C (p.Ser35Cys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- Ensembl rs2132956133
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available