H61R (p.His61Arg) variant of PRNP (Major prion protein)
H61R (p.His61Arg) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H61R (p.His61Arg) variant details
- p.His61Arg
- gnomAD 20-4699402-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.62
- CADD 23.30
- PolyPhen-2 0.49
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available