P24S (p.Pro24Ser) variant of PTCH1 (Protein patched homolog 1)
P24S (p.Pro24Ser) 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 Hereditary cancer-predisposing syndrome; Gorlin syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs1338078012
- ClinGen CA374121478
- ClinVar RCV001026036
- ClinVar RCV001220944
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- AlphaMissense 0.05
- MetaLR 0.45
- MetaSVM -0.55
- CADD 16.90
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome; not pr)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)