H52R (p.His52Arg) variant of ABCA4 (P78363)
H52R (p.His52Arg) 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 0.49 / 1. The record also includes population frequency data and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- rs2524014341
- ClinGen CA341286348
- ClinVar RCV002976373
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.45
- MetaLR 0.29
- MetaSVM -0.35
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available