Q501H (p.Gln501His) variant of PTCH1 (Protein patched homolog 1)
Q501H (p.Gln501His) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gorlin syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Q501H (p.Gln501His) variant details
- p.Gln501His
- rs1085307511
- ClinGen CA374118368
- ClinVar RCV001840877
- ClinVar RCV003609195
- Likely pathogenic
- Gorlin syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Gorlin syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely 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)