L47F (p.Leu47Phe) variant of ROS1 (P08922)
L47F (p.Leu47Phe) 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 0.17 / 1. The record also includes population frequency data and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- rs1775507306
- ClinGen CA365449630
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6385
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.06
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available