R15R (p.Arg15Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R15R (p.Arg15Arg) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R15R (p.Arg15Arg) variant details
- p.Arg15Arg
- rs1043104196
- gnomAD 10-87864007-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 15.60
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- Literature evidence available