N965S (p.Asn965Ser) variant of ABCA4 (P78363)
N965S (p.Asn965Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N965S (p.Asn965Ser) variant details
- p.Asn965Ser
- rs201471607
- ClinGen CA958124
- ClinVar RCV000408500
- ClinVar RCV000413621
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.78
- MetaLR 0.93
- MetaSVM 1.12
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and… (PMID 10746567)
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)