M1L (p.Met1Leu) variant of ABCA4 (P78363)
M1L (p.Met1Leu) in ABCA4 (P78363) 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 variant effect predictions and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs201738997
- ClinGen CA341289049
- ClinVar RCV003549213
- Pathogenic
- not provided
- Missense
- MetaLR 0.23
- MetaSVM -0.59
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available