N34S (p.Asn34Ser) variant of GLA (Alpha-galactosidase A)
N34S (p.Asn34Ser) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FABRYD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- rs104894835
- ClinGen CA021300
- ClinVar RCV000011471
- ClinVar RCV000723530
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.23
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (PMID 7504405)
- Cited in: Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's… (PMID 7599642)