S20C (p.Ser20Cys) variant of PDGFRB (P09619)
S20C (p.Ser20Cys) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- ExAC rs750698728
- gnomAD rs750698728
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 9.55
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available