G48S (p.Gly48Ser) variant of ROS1 (P08922)
G48S (p.Gly48Ser) in ROS1 (P08922) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- ExAC rs758251496
- gnomAD rs758251496
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -0.95
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available