D576H (p.Asp576His) variant of ABCA4 (P78363)
D576H (p.Asp576His) 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; not provided; Age related macular degeneration 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D576H (p.Asp576His) variant details
- p.Asp576His
- rs374224955
- ClinGen CA958448
- ClinVar RCV001073439
- ClinVar RCV001862502
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Age related macular degeneration 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.93
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.80
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Age related macular degeneratio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. (PMID 23143460)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)