R1705W (p.Arg1705Trp) variant of ABCA4 (P78363)
R1705W (p.Arg1705Trp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 40; Severe early-childhood-onset retinal dystrophy; Retinit. 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.
R1705W (p.Arg1705Trp) variant details
- p.Arg1705Trp
- rs771038310
- ClinGen CA957376
- cosmic curated COSV64671
- ClinVar RCV000779001
- Conflicting interpretations
- Retinitis pigmentosa 40; Severe early-childhood-onset retinal dystrophy; Retinit
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.92
- AlphaMissense 0.59
- MetaLR 0.83
- MetaSVM 0.86
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 40; Severe early-childhood-onset retinal dy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Cone rod dystrophies. (PMID 17270046)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)