P24A (p.Pro24Ala) variant of PTCH1 (Protein patched homolog 1)
P24A (p.Pro24Ala) 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 0.43 / 1. The record also includes published literature and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs1338078012
- ClinGen CA374121479
- ClinVar RCV002367347
- TOPMed rs1338078012
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.05
- MetaLR 0.45
- MetaSVM -0.55
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)