S44F (p.Ser44Phe) variant of PDGFRA (P16234)
S44F (p.Ser44Phe) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- ExAC rs774911799
- TOPMed rs774911799
- gnomAD rs774911799
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.20
- MetaLR 0.01
- MetaSVM -1.05
- CADD 26.10
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available