L18L (p.Leu18Leu) variant of PDGFRA (P16234)
L18L (p.Leu18Leu) in PDGFRA (P16234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1553902340
- gnomAD 4-54261099-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.33
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available