F873L (p.Phe873Leu) variant of ABCA4 (P78363)
F873L (p.Phe873Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F873L (p.Phe873Leu) variant details
- p.Phe873Leu
- rs62642570
- ClinGen CA227018
- ClinVar RCV000085496
- ClinVar RCV003235038
- Pathogenic
- Retinitis pigmentosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.93
- MetaLR 0.90
- MetaSVM 1.05
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic (Retinitis pigmentosa; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)