M162K (p.Met162Lys) variant of GBA1 (P04062)
M162K (p.Met162Lys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
M162K (p.Met162Lys) variant details
- p.Met162Lys
- rs794727783
- ClinGen CA342724678
- ClinVar RCV001091726
- Ensembl rs794727783
- Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Structural context available