S1071L (p.Ser1071Leu) variant of ABCA4 (P78363)
S1071L (p.Ser1071Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related disorder; Severe early-childhood-onset retinal dystrophy; Age rela. 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.
S1071L (p.Ser1071Leu) variant details
- p.Ser1071Leu
- rs61750065
- ClinGen CA227093
- NCI-TCGA Cosmic COSV6467
- ClinVar RCV000085559
- Pathogenic
- ABCA4-related disorder; Severe early-childhood-onset retinal dystrophy; Age rela
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 0.86
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related disorder; Severe early-childhood-onset retinal dys)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)
- Cited in: Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt… (PMID 9973280)