T2A (p.Thr2Ala) variant of PTEN (P60484)
T2A (p.Thr2Ala) in PTEN (P60484) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- NCI-TCGA Cosmic COSV6429
- gnomAD rs1478570799
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.52
- MetaSVM -0.21
- CADD 22.10
- 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