G22C (p.Gly22Cys) variant of PTCH1 (Protein patched homolog 1)
G22C (p.Gly22Cys) 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 0.33 / 1. The record also includes population frequency data and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- gnomAD rs1843904468
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.26
- CADD 20.90
- PolyPhen-2 0.15
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available