L2060R (p.Leu2060Arg) variant of ABCA4 (P78363)
L2060R (p.Leu2060Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L2060R (p.Leu2060Arg) variant details
- p.Leu2060Arg
- rs61753039
- ClinGen CA227373
- ClinVar RCV000085792
- ClinVar RCV002490744
- Pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.99
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in CORD3 and STGD1)
- UniProt: Pathogenic (in CORD3 and STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. (PMID 11385708)
- Cited in: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt… (PMID 18977788)