S10G (p.Ser10Gly) variant of PTEN (P60484)
S10G (p.Ser10Gly) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, 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 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10G (p.Ser10Gly) variant details
- p.Ser10Gly
- rs572685299
- ClinGen CA059806
- ClinVar RCV000490915
- 1000Genomes rs572685299
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.86
- MetaSVM 0.77
- CADD 24.60
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)