Q21R (p.Gln21Arg) variant of KIT (P10721)
Q21R (p.Gln21Arg) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- rs931395990
- ClinGen CA96859735
- ClinVar RCV000551257
- ClinVar RCV001025103
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.22
- MetaLR 0.19
- MetaSVM -0.90
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-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)