C3Y (p.Cys3Tyr) variant of LAMP2 (P13473)
C3Y (p.Cys3Tyr) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1.
C3Y (p.Cys3Tyr) variant details
- p.Cys3Tyr
- rs730880489
- ClinGen CA333700
- ClinVar RCV000157979
- TOPMed rs730880489
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.11
- MetaLR 0.20
- MetaSVM -0.91
- PolyPhen-2 0.18
- SIFT 0.01
- MutPred 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance