M1L (p.Met1Leu) variant of LRP5 (O75197)
M1L (p.Met1Leu) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2153110162
- ClinGen CA381607178
- ClinVar RCV003848167
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available