R11W (p.Arg11Trp) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R11W (p.Arg11Trp) 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 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs528340982
- gnomAD 10-87863956-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 20.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- Literature evidence available