L47L (p.Leu47Leu) variant of PDGFRA (P16234)
L47L (p.Leu47Leu) in PDGFRA (P16234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs1265352306
- gnomAD 4-54261184-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 13.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available