L3F (p.Leu3Phe) variant of PDGFRB (P09619)
L3F (p.Leu3Phe) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- ExAC rs757231368
- TOPMed rs757231368
- gnomAD rs757231368
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.03
- CADD 15.70
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available