K37N (p.Lys37Asn) variant of PDGFRA (P16234)
K37N (p.Lys37Asn) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- rs1553902353
- ClinGen CA356888272
- ClinVar RCV000633808
- ClinVar RCV002438668
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.02
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)