P24R (p.Pro24Arg) variant of PTCH1 (Protein patched homolog 1)
P24R (p.Pro24Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs767973616
- ClinGen CA374121476
- ClinVar RCV001362056
- ExAC rs767973616
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.64
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- 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)