P50R (p.Pro50Arg) variant of ROS1 (P08922)
P50R (p.Pro50Arg) in ROS1 (P08922) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- ExAC rs778252640
- gnomAD rs778252640
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available