L42F (p.Leu42Phe) variant of PDGFRB (P09619)
L42F (p.Leu42Phe) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD rs1760612434
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.01
- CADD 18.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available