C13* (p.Cys13Ter) variant of PDGFRA (P16234)
C13* (p.Cys13Ter) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C13* (p.Cys13Ter) variant details
- p.Cys13Ter
- gnomAD 4-54240097-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 2.27
- Most common in the Non-Finnish European population (allele frequency 7.9e-06)
- Structural context available
- Literature evidence available