W844R (p.Trp844Arg) variant of PTCH1 (Protein patched homolog 1)
W844R (p.Trp844Arg) 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.
W844R (p.Trp844Arg) variant details
- p.Trp844Arg
- rs2117947928
- ClinGen CA374113780
- ClinVar RCV002047987
- Ensembl rs2117947928
- Likely pathogenic
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- 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)