C75G (p.Cys75Gly) variant of ABCA4 (P78363)
C75G (p.Cys75Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C75G (p.Cys75Gly) variant details
- p.Cys75Gly
- rs61748526
- ClinGen CA226985
- ClinVar RCV000085466
- ClinVar RCV000504688
- Pathogenic
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 0.94
- CADD 25.80
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Retinitis pigmentosa)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt… (PMID 9973280)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)