M1I (p.Met1Ile) variant of ABCA4 (P78363)
M1I (p.Met1Ile) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs886041554
- ClinGen CA10602781
- ClinVar RCV000316791
- ClinVar RCV006272287
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- MetaLR 0.30
- MetaSVM -0.42
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available