D33N (p.Asp33Asn) variant of GLA (Alpha-galactosidase A)
D33N (p.Asp33Asn) in GLA (Alpha-galactosidase A) 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 0.61 / 1. The record also includes structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs2147487414
- ClinGen CA413937424
- ClinVar RCV001355414
- Ensembl rs2147487414
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.11
- MetaLR 0.99
- MetaSVM 1.51
- PolyPhen-2 0.01
- SIFT 0.09
- EVE 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in FABRYD)
- UniProt: Uncertain significance (in FABRYD)
- Structural context available