A23S (p.Ala23Ser) variant of PTCH1 (Protein patched homolog 1)
A23S (p.Ala23Ser) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- 1000Genomes rs863224654
- TOPMed rs863224654
- gnomAD rs863224654
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available