G12G (p.Gly12Gly) variant of PDGFRA (P16234)
G12G (p.Gly12Gly) in PDGFRA (P16234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- rs750539044
- gnomAD 4-54258804-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available