Y49H (p.Tyr49His) variant of PRNP (Major prion protein)
Y49H (p.Tyr49His) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y49H (p.Tyr49His) variant details
- p.Tyr49His
- gnomAD 20-4699365-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.62
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available