S44Y (p.Ser44Tyr) variant of PDGFRA (P16234)
S44Y (p.Ser44Tyr) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S44Y (p.Ser44Tyr) variant details
- p.Ser44Tyr
- gnomAD 4-54261176-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- MetaLR 0.01
- MetaSVM -1.07
- CADD 25.20
- PolyPhen-2 0.69
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available