L44F (p.Leu44Phe) variant of PDGFRB (P09619)
L44F (p.Leu44Phe) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- TOPMed rs1239434481
- gnomAD rs1239434481
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.27
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available