D22G (p.Asp22Gly) variant of PTEN (P60484)
D22G (p.Asp22Gly) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- rs1554890398
- ClinGen CA377782015
- ClinVar RCV000571172
- ClinVar RCV004794415
- Conflicting interpretations
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.01
- CADD 25.70
- ClinVar: Conflicting classifications of pathogenicity (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)