T499R (p.Thr499Arg) variant of PTCH1 (Protein patched homolog 1)
T499R (p.Thr499Arg) 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 Basal cell nevus syndrome 1; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
T499R (p.Thr499Arg) variant details
- p.Thr499Arg
- rs1298115628
- ClinGen CA374118381
- ClinVar RCV003448546
- ClinVar RCV005249513
- Likely pathogenic
- Basal cell nevus syndrome 1; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Basal cell nevus syndrome 1; Gorlin syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)