T2A (p.Thr2Ala) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
T2A (p.Thr2Ala) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- gnomAD rs1478570799
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- MetaLR 0.52
- MetaSVM -0.21
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.681