Y97C (p.Tyr97Cys) variant of ABCA4 (P78363)
Y97C (p.Tyr97Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y97C (p.Tyr97Cys) variant details
- p.Tyr97Cys
- rs755691060
- ClinGen CA958886
- ClinVar RCV001362207
- ClinVar RCV005408867
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- MetaLR 0.75
- MetaSVM 0.67
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)