Q40R (p.Gln40Arg) variant of PDGFRA (P16234)
Q40R (p.Gln40Arg) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- ExAC rs769214355
- gnomAD rs769214355
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.00
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available