H47D (p.His47Asp) variant of GALT (P07902)
H47D (p.His47Asp) in GALT (P07902) 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 0.86 / 1. The record also includes structural context.
H47D (p.His47Asp) variant details
- p.His47Asp
- rs886042074
- ClinGen CA10603777
- ClinVar RCV000322916
- Ensembl rs886042074
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available