G34R (p.Gly34Arg) variant of PRNP (Major prion protein)
G34R (p.Gly34Arg) in PRNP (Major prion protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10105
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.54
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available