S10F (p.Ser10Phe) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
S10F (p.Ser10Phe) 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 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- rs1178630827
- gnomAD 10-87864014-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 16.30
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Literature evidence available