M1115R (p.Met1115Arg) variant of ABCA4 (P78363)
M1115R (p.Met1115Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
M1115R (p.Met1115Arg) variant details
- p.Met1115Arg
- rs376947008
- ClinGen CA341291327
- ClinVar RCV001591906
- 1000Genomes rs376947008
- Likely pathogenic
- Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 1.01
- PolyPhen-2 0.67
- SIFT 0.00
- MutPred 0.89
- ClinVar: Likely pathogenic (Cone-rod dystrophy 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available