M61I (p.Met61Ile) variant of ABCA4 (P78363)
M61I (p.Met61Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M61I (p.Met61Ile) variant details
- p.Met61Ile
- rs750987349
- ClinGen CA341285598
- ClinVar RCV003541886
- ClinGen CA958898
- Pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.76
- MetaLR 0.89
- MetaSVM 0.97
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available