G25R (p.Gly25Arg) variant of PTCH1 (Protein patched homolog 1)
G25R (p.Gly25Arg) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs1843902765
- ClinGen CA374121475
- ClinVar RCV002903723
- Ensembl rs1843902765
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.18
- MetaLR 0.37
- MetaSVM -0.42
- PolyPhen-2 0.03
- SIFT 0.04
- MutPred 0.23
- ClinVar: Uncertain significance (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)