G37W (p.Gly37Trp) variant of PTCH1 (Protein patched homolog 1)
G37W (p.Gly37Trp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G37W (p.Gly37Trp) variant details
- p.Gly37Trp
- rs199976372
- ClinGen CA5139049
- ClinVar RCV000531311
- ClinVar RCV001797745
- Conflicting interpretations
- not specified; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hereditary cancer-predisposing synd)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)