M1V (p.Met1Val) variant of ABCA4 (P78363)
M1V (p.Met1Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The record also includes variant effect predictions, population frequency data, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs201738997
- ClinGen CA226968
- ClinVar RCV000085454
- ClinVar RCV000408483
- Pathogenic
- ABCA4-related retinopathy
- Missense
- MetaLR 0.23
- MetaSVM -0.59
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available