R24G (p.Arg24Gly) variant of ABCA4 (P78363)
R24G (p.Arg24Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs62645942
- ClinGen CA341286901
- ClinVar RCV001062719
- 1000Genomes rs62645942
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.16
- MetaLR 0.83
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available