G54S (p.Gly54Ser) variant of PRNP (Major prion protein)
G54S (p.Gly54Ser) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inherited prion disease; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- rs763524380
- ClinGen CA9752018
- ClinVar RCV000326386
- ClinVar RCV000527040
- Benign/Likely benign
- not provided; Inherited prion disease; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.58
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.13
- ClinVar: Benign/Likely benign (not provided; Inherited prion disease; Huntington disease-like 1)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)