R26P (p.Arg26Pro) variant of PTCH1 (Protein patched homolog 1)
R26P (p.Arg26Pro) 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 0.34 / 1. The record also includes population frequency data and structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- TOPMed rs1181222222
- gnomAD rs1181222222
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available