S48G (p.Ser48Gly) variant of PDGFRB (P09619)
S48G (p.Ser48Gly) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- TOPMed rs1323411468
- gnomAD rs1323411468
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.15
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available