P41L (p.Pro41Leu) variant of KIT (P10721)
P41L (p.Pro41Leu) 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 0.44 / 1. The record also includes published literature and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- rs2109660787
- ClinGen CA356896885
- ClinVar RCV001893255
- Ensembl rs2109660787
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.34
- MetaLR 0.31
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.33
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)