E18R (p.Glu18Arg) variant of PTEN (P60484)
E18R (p.Glu18Arg) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
E18R (p.Glu18Arg) variant details
- p.Glu18Arg
- rs2493592237
- ClinGen CA2695200937
- ClinVar RCV003452595
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- ESM-1b 1.00
- AlphaMissense 0.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)