P38L (p.Pro38Leu) variant of PDGFRB (P09619)
P38L (p.Pro38Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- ExAC rs754766440
- TOPMed rs754766440
- gnomAD rs754766440
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.07
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available