G35A (p.Gly35Ala) variant of PRNP (Major prion protein)
G35A (p.Gly35Ala) in PRNP (Major prion protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- NCI-TCGA Cosmic COSV1010
- ExAC rs758452370
- gnomAD rs758452370
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.59
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0029)
- Structural context available