P36S (p.Pro36Ser) variant of KIT (P10721)
P36S (p.Pro36Ser) 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; KIT-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs781633384
- ClinGen CA2923158
- ClinVar RCV000633807
- ClinVar RCV003225103
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; KIT-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.03
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.03
- CADD 9.82
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; KIT-related disorder; n)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)