G29R (p.Gly29Arg) variant of PTCH1 (Protein patched homolog 1)
G29R (p.Gly29Arg) 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 Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs2118909022
- ClinGen CA374121453
- ClinVar RCV001955221
- ClinVar RCV003464264
- Uncertain significance
- Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.16
- MetaLR 0.35
- MetaSVM -0.35
- PolyPhen-2 0.74
- SIFT 0.13
- MutPred 0.24
- ClinVar: Uncertain significance (Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Her)
- 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)