L4R (p.Leu4Arg) variant of PRNP (Major prion protein)
L4R (p.Leu4Arg) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- ExAC rs772131924
- gnomAD rs772131924
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.35
- CADD 22.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available