V9A (p.Val9Ala) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
V9A (p.Val9Ala) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- gnomAD 10-87864026-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 20.70
- SIFT 0.03
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.762
- Literature evidence available