A3P (p.Ala3Pro) variant of PTEN (P60484)
A3P (p.Ala3Pro) in PTEN (P60484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- rs1858364365
- gnomAD 10-87863983-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 16.50
- 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