H141L (p.His141Leu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
H141L (p.His141Leu) 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 likely pathogenic in the context of PTEN hamartoma tumor syndrome; Cowden syndrome 1; Macrocephaly-autism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
H141L (p.His141Leu) variant details
- p.His141Leu
- rs863224666
- ClinGen CA377482383
- ClinVar RCV002287192
- ClinVar RCV003097716
- Likely pathogenic
- PTEN hamartoma tumor syndrome; Cowden syndrome 1; Macrocephaly-autism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.95
- MetaLR 0.63
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome; Cowden syndrome 1; Macrocephaly-a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.0084
- 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)