C6G (p.Cys6Gly) variant of PRNP (Major prion protein)
C6G (p.Cys6Gly) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C6G (p.Cys6Gly) variant details
- p.Cys6Gly
- gnomAD 20-4699236-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.23
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available