R41S (p.Arg41Ser) variant of PTCH1 (Protein patched homolog 1)
R41S (p.Arg41Ser) 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; Gorlin syndrome; Basal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs1554709496
- ClinGen CA374121398
- ClinVar RCV000699286
- ClinVar RCV002352179
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Basal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.38
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.43
- CADD 23.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Basal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)