G17S (p.Gly17Ser) variant of PTCH1 (Protein patched homolog 1)
G17S (p.Gly17Ser) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. 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.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- TOPMed rs1217844666
- gnomAD rs1217844666
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- AlphaMissense 0.25
- MetaLR 0.45
- MetaSVM -0.66
- CADD 13.10
- PolyPhen-2 0.21
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available