E18G (p.Glu18Gly) variant of PTEN (P60484)
E18G (p.Glu18Gly) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- rs2132142707
- gnomAD 10-87864017-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 17.40
- Most common in the Middle Eastern population (allele frequency 0.00082)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48
- Literature evidence available