N33S (p.Asn33Ser) variant of PDGFRA (P16234)
N33S (p.Asn33Ser) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- rs1484218141
- gnomAD 4-54240075-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available