Q31* (p.Gln31Ter) variant of PDGFRB (P09619)
Q31* (p.Gln31Ter) in PDGFRB (P09619) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- ExAC rs764493388
- gnomAD rs764493388
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available