A3R (p.Ala3Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
A3R (p.Ala3Arg) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3R (p.Ala3Arg) variant details
- p.Ala3Arg
- rs1858362139
- gnomAD 10-87863962-G-GGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 19.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available