D404V (p.Asp404Val) variant of GAA (Lysosomal alpha-glucosidase)
D404V (p.Asp404Val) 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; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D404V (p.Asp404Val) variant details
- p.Asp404Val
- rs886042961
- ClinGen CA10604928
- ClinVar RCV000343108
- TOPMed rs886042961
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available