F50L (p.Phe50Leu) variant of PDGFRB (P09619)
F50L (p.Phe50Leu) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
F50L (p.Phe50Leu) variant details
- p.Phe50Leu
- ExAC rs753583697
- TOPMed rs753583697
- gnomAD rs753583697
- Missense
- Variant Prioritization Score for Impact Estimate 0.0625
- REVEL 0.05
- CADD 3.04
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available