A3A (p.Ala3Ala) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
A3A (p.Ala3Ala) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- gnomAD 10-87863970-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 16.20
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available