E1036K (p.Glu1036Lys) variant of ABCA4 (P78363)
E1036K (p.Glu1036Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 19; Age related macular degeneration 2; Severe early-childh. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E1036K (p.Glu1036Lys) variant details
- p.Glu1036Lys
- rs61750061
- ClinGen CA227082
- ClinVar RCV000008337
- ClinVar RCV000085548
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 19; Age related macular degeneration 2; Severe early-childh
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.51
- MetaLR 0.39
- MetaSVM -0.63
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 19; Age related macular degeneration 2; Sev)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- 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)