A42G (p.Ala42Gly) variant of PTCH1 (Protein patched homolog 1)
A42G (p.Ala42Gly) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; not specified; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- rs1030446889
- ClinGen CA196555548
- ClinVar RCV000613176
- ClinVar RCV000802616
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; not specified; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.24
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; not specified; Gorlin s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)