A3H (p.Ala3His) variant of PTEN (P60484)
A3H (p.Ala3His) in PTEN (P60484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3H (p.Ala3His) variant details
- p.Ala3His
- gnomAD 10-87863978-C-CAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 16.20
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available