P71L (p.Pro71Leu) variant of GBA1 (P04062)
P71L (p.Pro71Leu) 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. The record also includes structural context.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- rs2524847096
- ClinGen CA342727597
- ClinVar RCV003328056
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available