E7G (p.Glu7Gly) variant of PTEN (P60484)
E7G (p.Glu7Gly) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- rs2132142216
- gnomAD 10-87863954-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 7e-06)
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Literature evidence available