G16C (p.Gly16Cys) variant of PTCH1 (Protein patched homolog 1)
G16C (p.Gly16Cys) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- TOPMed rs1057515721
- gnomAD rs1057515721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.31
- CADD 18.00
- PolyPhen-2 0.42
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available