L9F (p.Leu9Phe) variant of PDGFRA (P16234)
L9F (p.Leu9Phe) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 4-54240073-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available