H62Q (p.His62Gln) variant of ROS1 (P08922)
H62Q (p.His62Gln) in ROS1 (P08922) is a missense change. Clinical records from ClinVar, EBI, 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 0.21 / 1. The record also includes population frequency data and structural context.
H62Q (p.His62Gln) variant details
- p.His62Gln
- ExAC rs757191782
- TOPMed rs757191782
- gnomAD rs757191782
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -0.98
- CADD 9.85
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available