I8V (p.Ile8Val) variant of ROS1 (P08922)
I8V (p.Ile8Val) in ROS1 (P08922) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- TOPMed rs1229447233
- gnomAD rs1229447233
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.11
- CADD 0.98
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available