H93R (p.His93Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
H93R (p.His93Arg) 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 in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
H93R (p.His93Arg) variant details
- p.His93Arg
- rs121909238
- ClinGen CA000381
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in MCEPHAS)
- UniProt: Pathogenic (in MCEPHAS)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.324
- Cited in: Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour… (PMID 15805158)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)