A2A (p.Ala2Ala) variant of PRNP (Major prion protein)
A2A (p.Ala2Ala) in PRNP (Major prion protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1405257982
- gnomAD 20-4699226-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 1.21
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available