P34L (p.Pro34Leu) variant of KIT (P10721)
P34L (p.Pro34Leu) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs55755457
- ClinGen CA2923156
- ClinVar RCV000459377
- ClinVar RCV001009720
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.96
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- 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)