F655C (p.Phe655Cys) variant of ABCA4 (P78363)
F655C (p.Phe655Cys) 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; Cone-rod dyst. 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.
F655C (p.Phe655Cys) variant details
- p.Phe655Cys
- rs200692438
- ClinGen CA347415
- ClinVar RCV000194199
- ClinVar RCV000408459
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Cone-rod dyst
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.93
- MetaLR 0.82
- MetaSVM 0.84
- CADD 27.70
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)