G29E (p.Gly29Glu) variant of PRNP (Major prion protein)
G29E (p.Gly29Glu) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- rs989264799
- ClinGen CA311093181
- ClinVar RCV001991499
- TOPMed rs989264799
- Uncertain significance
- Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.89
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (Huntington disease-like 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)