A14T (p.Ala14Thr) variant of PRNP (Major prion protein)
A14T (p.Ala14Thr) in PRNP (Major prion protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD rs926468769
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available