C75Y (p.Cys75Tyr) variant of ABCA4 (P78363)
C75Y (p.Cys75Tyr) 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 0.90 / 1. The record also includes population frequency data and structural context.
C75Y (p.Cys75Tyr) variant details
- p.Cys75Tyr
- rs1264338576
- ClinGen CA341285515
- ClinVar RCV003674473
- TOPMed rs1264338576
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.93
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in STGD1)
- UniProt: Likely pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available