S1696N (p.Ser1696Asn) variant of ABCA4 (P78363)
S1696N (p.Ser1696Asn) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S1696N (p.Ser1696Asn) variant details
- p.Ser1696Asn
- rs61750564
- ClinGen CA227272
- ClinVar RCV000085697
- ClinVar RCV000408469
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.69
- AlphaMissense 0.86
- MetaLR 0.74
- MetaSVM 0.59
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Cone-rod dystrop)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (PMID 19265867)
- Cited in: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. (PMID 33375396)