L9S (p.Leu9Ser) variant of PDGFRA (P16234)
L9S (p.Leu9Ser) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L9S (p.Leu9Ser) variant details
- p.Leu9Ser
- gnomAD 4-54240072-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 14.40
- Most common in the Middle Eastern population (allele frequency 0.00038)
- Structural context available
- Literature evidence available