E34G (p.Glu34Gly) variant of PDGFRA (P16234)
E34G (p.Glu34Gly) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD 4-54261146-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.20
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available