C1488F (p.Cys1488Phe) variant of ABCA4 (P78363)
C1488F (p.Cys1488Phe) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Age related macular degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C1488F (p.Cys1488Phe) variant details
- p.Cys1488Phe
- rs61750147
- ClinGen CA227195
- ClinVar RCV000085639
- ClinVar RCV002225081
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)