L4H (p.Leu4His) variant of PRNP (Major prion protein)
L4H (p.Leu4His) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L4H (p.Leu4His) variant details
- p.Leu4His
- ExAC rs772131924
- gnomAD rs772131924
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available