M1L (p.Met1Leu) variant of PTEN (P60484)
M1L (p.Met1Leu) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Macrocephaly-autism syndrome; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1554890324
- ClinGen CA377781753
- ClinVar RCV004442426
- Pathogenic
- Macrocephaly-autism syndrome; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 1.07
- 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)