I21M (p.Ile21Met) variant of PTCH1 (Protein patched homolog 1)
I21M (p.Ile21Met) 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; not provided; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I21M (p.Ile21Met) variant details
- p.Ile21Met
- rs1284183739
- ClinGen CA374121489
- ClinVar RCV001321074
- ClinVar RCV002259103
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.22
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gorlin sy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)