A1598D (p.Ala1598Asp) variant of ABCA4 (P78363)
A1598D (p.Ala1598Asp) 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; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A1598D (p.Ala1598Asp) variant details
- p.Ala1598Asp
- rs61750155
- ClinGen CA227239
- ClinVar RCV000085674
- ClinVar RCV000408465
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.69
- AlphaMissense 0.48
- MetaLR 0.60
- MetaSVM 0.25
- CADD 16.30
- PolyPhen-2 0.87
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in CORD3 and STGD1)
- UniProt: Pathogenic (in CORD3 and STGD1)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (PMID 10958761)
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)