N14K (p.Asn14Lys) variant of ABCA4 (P78363)
N14K (p.Asn14Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stargardt disease. 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.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- UniProt VAR 084833
- Pathogenic
- Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.76
- MetaLR 0.89
- MetaSVM 0.94
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Stargardt disease)
- EBI: Variant of uncertain significance (in STGD1)
- UniProt: Uncertain significance (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)