D507Y (p.Asp507Tyr) variant of ABCA4 (P78363)
D507Y (p.Asp507Tyr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D507Y (p.Asp507Tyr) variant details
- p.Asp507Tyr
- rs148234178
- ClinGen CA958508
- ClinVar RCV003562269
- ClinVar RCV005240819
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.83
- MetaLR 0.69
- MetaSVM 0.48
- CADD 24.90
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)