D22V (p.Asp22Val) variant of PTEN (P60484)
D22V (p.Asp22Val) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
D22V (p.Asp22Val) variant details
- p.Asp22Val
- rs1554890398
- ClinGen CA377782016
- ClinVar RCV004525237
- Ensembl rs1554890398
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.901
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)