E53V (p.Glu53Val) variant of ABCA4 (P78363)
E53V (p.Glu53Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E53V (p.Glu53Val) variant details
- p.Glu53Val
- rs1662652110
- ClinGen CA341286322
- ClinVar RCV001325383
- Ensembl rs1662652110
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- MetaLR 0.96
- MetaSVM 1.11
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available