S65G (p.Ser65Gly) variant of GLA (Alpha-galactosidase A)
S65G (p.Ser65Gly) 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 0.73 / 1. The record also includes structural context.
S65G (p.Ser65Gly) variant details
- p.Ser65Gly
- rs1569306013
- ClinGen CA413936576
- NCI-TCGA Cosmic COSV5450
- ClinVar RCV000733743
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.10
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in FABRYD)
- UniProt: Uncertain significance (in FABRYD)
- Structural context available