G29E (p.Gly29Glu) variant of PTCH1 (Protein patched homolog 1)
G29E (p.Gly29Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- rs2118909005
- ClinGen CA374121452
- ClinVar RCV002037219
- Ensembl rs2118909005
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.47
- PolyPhen-2 0.74
- SIFT 0.22
- MutPred 0.25
- ClinVar: Uncertain significance (Gorlin 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)