G56C (p.Gly56Cys) variant of PDGFRB (P09619)
G56C (p.Gly56Cys) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G56C (p.Gly56Cys) variant details
- p.Gly56Cys
- gnomAD rs1386589670
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.32
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available