W63* (p.Trp63Ter) variant of CSF3R (Q99062)
W63* (p.Trp63Ter) in CSF3R (Q99062) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W63* (p.Trp63Ter) variant details
- p.Trp63Ter
- rs1286213872
- ClinGen CA339425001
- ClinVar RCV003147658
- ClinVar RCV005057612
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available