D252V (p.Asp252Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D252V (p.Asp252Val) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PTEN hamartoma tumor syndrome; Cowden syndrome; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
D252V (p.Asp252Val) variant details
- p.Asp252Val
- rs121909239
- ClinGen CA377485003
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- PTEN hamartoma tumor syndrome; Cowden syndrome; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (PTEN hamartoma tumor syndrome; Cowden syndrome; Cowden syndrome)
- EBI: Pathogenic (in MCEPHAS and CWS1)
- UniProt: Pathogenic (in MCEPHAS and CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.117
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)