S30R (p.Ser30Arg) variant of KIT (P10721)
S30R (p.Ser30Arg) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- rs2109660456
- ClinGen CA356896822
- ClinVar RCV001955217
- ClinVar RCV004042891
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- MetaLR 0.43
- MetaSVM -0.35
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)