T499I (p.Thr499Ile) variant of PTCH1 (Protein patched homolog 1)
T499I (p.Thr499Ile) 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 0.80 / 1. The record also includes population frequency data and structural context.
T499I (p.Thr499Ile) variant details
- p.Thr499Ile
- cosmic curated COSV10523
- TOPMed rs1298115628
- gnomAD rs1298115628
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.78
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.93
- CADD 29.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available