C76R (p.Cys76Arg) variant of ROS1 (P08922)
C76R (p.Cys76Arg) in ROS1 (P08922) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C76R (p.Cys76Arg) variant details
- p.Cys76Arg
- ExAC rs755740564
- gnomAD rs755740564
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.72
- MetaLR 0.42
- MetaSVM -0.15
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available