A14A (p.Ala14Ala) variant of PRNP (Major prion protein)
A14A (p.Ala14Ala) in PRNP (Major prion protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1922372775
- gnomAD 20-4699262-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available