E18V (p.Glu18Val) variant of PTEN (P60484)
E18V (p.Glu18Val) in PTEN (P60484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- rs1858367335
- gnomAD 10-87864015-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 15.60
- Most common in the East Asian population (allele frequency 4.5e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48
- Literature evidence available