S10V (p.Ser10Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
S10V (p.Ser10Val) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10V (p.Ser10Val) variant details
- p.Ser10Val
- rs1858366519
- gnomAD 10-87864007-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 15.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Literature evidence available