C23G (p.Cys23Gly) variant of PDGFRA (P16234)
C23G (p.Cys23Gly) in PDGFRA (P16234) is a missense change. 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.
C23G (p.Cys23Gly) variant details
- p.Cys23Gly
- 1000Genomes rs561082994
- ExAC rs561082994
- gnomAD rs561082994
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- MetaLR 0.30
- MetaSVM -0.75
- CADD 21.90
- SIFT 0.34
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available