S4P (p.Ser4Pro) variant of PDGFRA (P16234)
S4P (p.Ser4Pro) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- rs1721218317
- gnomAD 4-54240077-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 15.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available