S24P (p.Ser24Pro) variant of KIT (P10721)
S24P (p.Ser24Pro) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S24P (p.Ser24Pro) variant details
- p.Ser24Pro
- rs1719995693
- ClinGen CA356896785
- ClinVar RCV001320416
- Ensembl rs1719995693
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.88
- CADD 21.00
- PolyPhen-2 0.19
- SIFT 0.19
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)