E616K (p.Glu616Lys) variant of ABCA4 (P78363)
E616K (p.Glu616Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinitis pigmentosa 19; Severe early-childhood-onset retinal dyst. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E616K (p.Glu616Lys) variant details
- p.Glu616Lys
- rs1557787473
- ClinGen CA341279484
- ClinVar RCV000986370
- ClinVar RCV001002841
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa 19; Severe early-childhood-onset retinal dyst
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- MetaLR 0.92
- MetaSVM 1.05
- CADD 27.20
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa 19; Severe early-childhood-on)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (PMID 19265867)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)