P6H (p.Pro6His) variant of PDGFRA (P16234)
P6H (p.Pro6His) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- gnomAD 4-54240060-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available