P26A (p.Pro26Ala) variant of PRNP (Major prion protein)
P26A (p.Pro26Ala) 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 Inherited prion disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- rs11538755
- ClinGen CA408151575
- ClinVar RCV001143501
- Ensembl rs11538755
- Uncertain significance
- Inherited prion disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.23
- MetaLR 0.88
- MetaSVM 0.53
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (Inherited prion disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)