G12D (p.Gly12Asp) variant of PDGFRA (P16234)
G12D (p.Gly12Asp) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- TOPMed rs1440200916
- gnomAD rs1440200916
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.70
- CADD 19.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available