R24C (p.Arg24Cys) variant of ABCA4 (P78363)
R24C (p.Arg24Cys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- rs62645942
- ClinGen CA227447
- ClinVar RCV000085858
- ClinVar RCV005031591
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.87
- AlphaMissense 0.16
- MetaLR 0.83
- MetaSVM 0.77
- CADD 32.00
- PolyPhen-2 1.00
- 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 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)