Y1858N (p.Tyr1858Asn) variant of ABCA4 (P78363)
Y1858N (p.Tyr1858Asn) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Age related macular degeneration. 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.
Y1858N (p.Tyr1858Asn) variant details
- p.Tyr1858Asn
- rs371489809
- ClinGen CA957222
- ClinVar RCV000421632
- ClinVar RCV002289547
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.83
- AlphaMissense 0.43
- MetaLR 0.66
- MetaSVM 0.43
- CADD 28.50
- PolyPhen-2 0.96
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)