A3D (p.Ala3Asp) variant of PTEN (P60484)
A3D (p.Ala3Asp) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes experimental measurements and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- Ensembl rs1564801650
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- ESM-1b 0.00
- AlphaMissense 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01