P681L (p.Pro681Leu) variant of PTCH1 (Protein patched homolog 1)
P681L (p.Pro681Leu) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
P681L (p.Pro681Leu) variant details
- p.Pro681Leu
- rs1588574709
- ClinGen CA374115777
- NCI-TCGA Cosmic COSV5946
- cosmic curated COSV59461
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 0.91
- SIFT 0.01
- EVE 0.41
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)