P37S (p.Pro37Ser) variant of PDGFRB (P09619)
P37S (p.Pro37Ser) in PDGFRB (P09619) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- ExAC rs748906060
- TOPMed rs748906060
- gnomAD rs748906060
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.42
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available