E7R (p.Glu7Arg) variant of PTEN (P60484)
E7R (p.Glu7Arg) in PTEN (P60484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7R (p.Glu7Arg) variant details
- p.Glu7Arg
- gnomAD 10-87863956-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 19.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.2e-05)
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Literature evidence available