M1T (p.Met1Thr) variant of ABCA4 (P78363)
M1T (p.Met1Thr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1662938116
- ClinGen CA341289047
- ClinVar RCV002648183
- ClinVar RCV003324587
- Pathogenic/Likely pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- MetaLR 0.28
- MetaSVM -0.44
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available