R511C (p.Arg511Cys) variant of ABCA4 (P78363)
R511C (p.Arg511Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R511C (p.Arg511Cys) variant details
- p.Arg511Cys
- rs752786160
- ClinGen CA958502
- ClinVar RCV000429156
- ClinVar RCV000779006
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.70
- MetaLR 0.70
- MetaSVM 0.34
- CADD 22.60
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Likely pathogenic (maculopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the East Asian population (allele frequency 0.0015)
- 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: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)