A7L (p.Ala7Leu) variant of PDGFRA (P16234)
A7L (p.Ala7Leu) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A7L (p.Ala7Leu) variant details
- p.Ala7Leu
- gnomAD 4-54240080-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 8.08
- Population evidence available
- Structural context available
- Literature evidence available