I4V (p.Ile4Val) variant of PTEN (P60484)
I4V (p.Ile4Val) 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 0.35 / 1. The record also includes experimental measurements, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs1647701808
- ClinGen CA377781789
- ClinVar RCV002281488
- ClinVar RCV002295377
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.61
- MetaSVM -0.05
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- 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)