P10S (p.Pro10Ser) variant of PTCH1 (Protein patched homolog 1)
P10S (p.Pro10Ser) 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 specified; Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs1587701162
- ClinGen CA374121635
- ClinVar RCV001016910
- ClinVar RCV001819729
- Conflicting interpretations
- not specified; Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary cancer-predisposing syndrome; Gorlin s)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- 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)