L20L (p.Leu20Leu) variant of PDGFRA (P16234)
L20L (p.Leu20Leu) in PDGFRA (P16234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs1060504253
- gnomAD 4-54261105-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0888
- CADD 1.54
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available