Q11R (p.Gln11Arg) variant of PTCH1 (Protein patched homolog 1)
Q11R (p.Gln11Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- rs2538404656
- ClinGen CA374121612
- ClinVar RCV003296222
- ClinVar RCV004823142
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.22
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)