G2A (p.Gly2Ala) variant of PDGFRA (P16234)
G2A (p.Gly2Ala) 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 0.50 / 1. The record also includes published literature and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs2110235021
- ClinGen CA356888045
- ClinVar RCV004523960
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.12
- MetaLR 0.56
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)