N96K (p.Asn96Lys) variant of ABCA4 (P78363)
N96K (p.Asn96Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided. 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.
N96K (p.Asn96Lys) variant details
- p.Asn96Lys
- rs886039297
- ClinGen CA10588305
- ClinVar RCV000255898
- ClinVar RCV004816463
- Conflicting interpretations
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.85
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (PMID 19265867)