C1488R (p.Cys1488Arg) variant of ABCA4 (P78363)
C1488R (p.Cys1488Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. 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.
C1488R (p.Cys1488Arg) variant details
- p.Cys1488Arg
- rs61750146
- ClinGen CA227193
- ClinVar RCV000085637
- ClinVar RCV000408472
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.93
- MetaLR 0.91
- MetaSVM 1.05
- CADD 25.50
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1 and FFM)
- UniProt: Pathogenic (in STGD1 and FFM)
- Most common in the South Asian population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)