H53R (p.His53Arg) variant of GAA (Lysosomal alpha-glucosidase)
H53R (p.His53Arg) in GAA (Lysosomal alpha-glucosidase) 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 0.23 / 1. The record also includes population frequency data and structural context.
H53R (p.His53Arg) variant details
- p.His53Arg
- rs780554430
- ClinGen CA8814797
- ClinVar RCV003143452
- ExAC rs780554430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.30
- MetaLR 0.40
- MetaSVM -0.65
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available