C13Y (p.Cys13Tyr) variant of PDGFRA (P16234)
C13Y (p.Cys13Tyr) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
C13Y (p.Cys13Tyr) variant details
- p.Cys13Tyr
- gnomAD rs1227672940
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- MetaLR 0.24
- MetaSVM -0.69
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available