C75R (p.Cys75Arg) variant of ABCA4 (P78363)
C75R (p.Cys75Arg) 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 0.86 / 1. The record also includes population frequency data and structural context.
C75R (p.Cys75Arg) variant details
- p.Cys75Arg
- rs61748526
- ClinGen CA341285516
- ClinVar RCV001363327
- TOPMed rs61748526
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.91
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available