A2E (p.Ala2Glu) variant of PRNP (Major prion protein)
A2E (p.Ala2Glu) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- cosmic curated COSV65174
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.18
- CADD 14.60
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available