P39L (p.Pro39Leu) variant of PRNP (Major prion protein)
P39L (p.Pro39Leu) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inherited prion disease; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- ExAC rs747019990
- TOPMed rs747019990
- gnomAD rs747019990
- Conflicting interpretations
- Inherited prion disease; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inherited prion disease; Huntington disease-like 1)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00027)
- Structural context available