H52Q (p.His52Gln) variant of ABCA4 (P78363)
H52Q (p.His52Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- rs557725292
- ClinGen CA958920
- ClinVar RCV001044124
- ClinVar RCV001075007
- Uncertain significance
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.72
- MetaLR 0.20
- MetaSVM -0.13
- CADD 17.20
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (ABCA4-related retinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available