L47V (p.Leu47Val) variant of PDGFRA (P16234)
L47V (p.Leu47Val) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The record also includes variant effect predictions and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD rs1265352306
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- MetaLR 0.02
- MetaSVM -1.20
- SIFT 0.07
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available