C19Y (p.Cys19Tyr) variant of ROS1 (P08922)
C19Y (p.Cys19Tyr) in ROS1 (P08922) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- ExAC rs747481675
- TOPMed rs747481675
- gnomAD rs747481675
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.01
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available