P34Q (p.Pro34Gln) variant of KIT (P10721)
P34Q (p.Pro34Gln) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- rs55755457
- ClinGen CA160365
- ClinVar RCV000121319
- ClinVar RCV001303956
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.20
- MetaLR 0.16
- MetaSVM -0.91
- CADD 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- 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)