S115* (p.Ser115Ter) variant of LAMP2 (P13473)
S115* (p.Ser115Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
S115* (p.Ser115Ter) variant details
- p.Ser115Ter
- rs950725039
- ClinGen CA414402920
- ClinVar RCV002221763
- Ensembl rs950725039
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -0.96
- PolyPhen-2 0.01
- SIFT 0.36
- EVE 0.16
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available