N47D (p.Asn47Asp) variant of PRNP (Major prion protein)
N47D (p.Asn47Asp) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- ExAC rs770271370
- gnomAD rs770271370
- Uncertain significance
- Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.50
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.36
- ClinVar: Uncertain significance (Huntington disease-like 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available