K2076E (p.Lys2076Glu) variant of ABCA4 (P78363)
K2076E (p.Lys2076Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital stationary night blindness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
K2076E (p.Lys2076Glu) variant details
- p.Lys2076Glu
- rs1553186509
- ClinGen CA341278240
- ClinVar RCV000504998
- Ensembl rs1553186509
- Likely pathogenic
- Congenital stationary night blindness
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- MutPred 0.83
- ClinVar: Likely pathogenic (Congenital stationary night blindness)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available