G445D (p.Gly445Asp) variant of PTCH1 (Protein patched homolog 1)
G445D (p.Gly445Asp) 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 Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G445D (p.Gly445Asp) variant details
- p.Gly445Asp
- rs2118329688
- ClinGen CA374118728
- ClinVar RCV001879613
- ClinVar RCV006424835
- Uncertain significance
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)