C19S (p.Cys19Ser) variant of ROS1 (P08922)
C19S (p.Cys19Ser) in ROS1 (P08922) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C19S (p.Cys19Ser) variant details
- p.Cys19Ser
- rs747481675
- NCI-TCGA Cosmic COSV6385
- cosmic curated COSV63857
- ExAC rs747481675
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -0.94
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available