R1860W (p.Arg1860Trp) variant of ABCA4 (P78363)
R1860W (p.Arg1860Trp) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R1860W (p.Arg1860Trp) variant details
- p.Arg1860Trp
- rs200849015
- ClinGen CA26838213
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.60
- MetaLR 0.62
- MetaSVM 0.28
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)