R1129H (p.Arg1129His) variant of ABCA4 (P78363)
R1129H (p.Arg1129His) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1129H (p.Arg1129His) variant details
- p.Arg1129His
- rs1801269
- ClinGen CA341291094
- ClinVar RCV001073590
- ClinVar RCV003405293
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Age related macular degeneration 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.80
- MetaLR 0.48
- MetaSVM -0.02
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Age related macular degeneratio)
- EBI: Pathogenic (in STGD1, CORD3 and RP19)
- UniProt: Pathogenic (in STGD1, CORD3 and RP19)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)