R24H (p.Arg24His) variant of ABCA4 (P78363)
R24H (p.Arg24His) 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 disorder; ABCA4-related disorder; Severe early-childhood-onset retinal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- rs62645958
- ClinGen CA227449
- ClinVar RCV000085859
- ClinVar RCV000779009
- Pathogenic/Likely pathogenic
- Retinal disorder; ABCA4-related disorder; Severe early-childhood-onset retinal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- MetaLR 0.79
- MetaSVM 0.69
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; ABCA4-related disorder; Severe early-childhood)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:KHV population (allele frequency 0.0099)
- Structural context available
- Cited in: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence… (PMID 23419329)
- Cited in: An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt… (PMID 25346251)