T499K (p.Thr499Lys) variant of PTCH1 (Protein patched homolog 1)
T499K (p.Thr499Lys) 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 0.84 / 1. The record also includes published literature and structural context.
T499K (p.Thr499Lys) variant details
- p.Thr499Lys
- rs1298115628
- ClinGen CA374118382
- ClinVar RCV001238083
- TOPMed rs1298115628
- Uncertain significance
- 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: 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)