L25D (p.Leu25Asp) variant of PTEN (P60484)
L25D (p.Leu25Asp) 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 1 / 1. The record also includes experimental measurements, published literature, and structural context.
L25D (p.Leu25Asp) variant details
- p.Leu25Asp
- rs2493592611
- ClinGen CA2695200948
- ClinVar RCV003452539
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.103
- 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)