H5P (p.His5Pro) variant of PDGFRA (P16234)
H5P (p.His5Pro) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
H5P (p.His5Pro) variant details
- p.His5Pro
- rs776018656
- ClinGen CA356888060
- ClinVar RCV003638335
- NCI-TCGA TCGA novel
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.56
- MutPred 0.38
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)