p.Leu27dup variant of PDGFRA (P16234)
p.Leu27dup in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu27dup variant details
- rs1560466532
- gnomAD 4-54261122-C-CATT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 13.10
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Literature evidence available