R41G (p.Arg41Gly) variant of PTCH1 (Protein patched homolog 1)
R41G (p.Arg41Gly) 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 0.70 / 1. The record also includes published literature and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- rs1554709496
- ClinGen CA374121397
- ClinVar RCV003504036
- Ensembl rs1554709496
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.42
- 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)