G1163R (p.Gly1163Arg) variant of PTCH1 (Protein patched homolog 1)
G1163R (p.Gly1163Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
G1163R (p.Gly1163Arg) variant details
- p.Gly1163Arg
- rs113663584
- ClinGen CA374111560
- cosmic curated COSV10811
- ClinVar RCV002048633
- Likely pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.54
- ClinVar: Likely pathogenic (Gorlin syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)