P50L (p.Pro50Leu) variant of ROS1 (P08922)
P50L (p.Pro50Leu) in ROS1 (P08922) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- ExAC rs778252640
- gnomAD rs778252640
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.02
- CADD 19.10
- PolyPhen-2 0.26
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available