E207K (p.Glu207Lys) variant of ABCA4 (P78363)
E207K (p.Glu207Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E207K (p.Glu207Lys) variant details
- p.Glu207Lys
- rs147807073
- ClinGen CA958782
- ClinVar RCV001039283
- ClinVar RCV006455355
- Pathogenic/Likely pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.71
- MetaLR 0.34
- MetaSVM -0.80
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available