L2033R (p.Leu2033Arg) variant of ABCA4 (P78363)
L2033R (p.Leu2033Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinitis pigmentosa 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L2033R (p.Leu2033Arg) variant details
- p.Leu2033Arg
- rs1553186896
- ClinGen CA341278996
- ClinVar RCV000504619
- ClinVar RCV000787518
- Pathogenic
- not provided; Retinitis pigmentosa 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Retinitis pigmentosa 19)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt… (PMID 25346251)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)