N33T (p.Asn33Thr) variant of PDGFRA (P16234)
N33T (p.Asn33Thr) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N33T (p.Asn33Thr) variant details
- p.Asn33Thr
- rs1290070962
- gnomAD 4-54240072-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available