R5P (p.Arg5Pro) variant of KIT (P10721)
R5P (p.Arg5Pro) in KIT (P10721) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- rs1716939382
- ClinGen CA356897861
- ClinVar RCV001223517
- Ensembl rs1716939382
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.43
- MetaLR 0.41
- MetaSVM -0.52
- CADD 25.00
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)