A117V (p.Ala117Val) variant of PRNP (Major prion protein)
A117V (p.Ala117Val) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- rs74315402
- ClinGen CA256776
- ClinVar RCV000014330
- ClinVar RCV000623716
- Pathogenic
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.22
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.16
- ClinVar: Pathogenic (Huntington disease-like 1)
- EBI: Pathogenic (linked to development of dementing Gerstmann-Straussler disease)
- UniProt: Pathogenic (linked to development of dementing Gerstmann-Straussler disease)
- Structural context available
- Cited in: Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. (PMID 10506086)
- Cited in: Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to… (PMID 2783132)