A3V (p.Ala3Val) variant of PTEN (P60484)
A3V (p.Ala3Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes experimental measurements, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1564801650
- ClinGen CA377781785
- ClinVar RCV000773966
- ClinVar RCV001304693
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- ESM-1b 0.73
- AlphaMissense 0.49
- MetaLR 0.71
- MetaSVM 0.25
- PolyPhen-2 0.08
- SIFT 0.05
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)