R26W (p.Arg26Trp) variant of PTCH1 (Protein patched homolog 1)
R26W (p.Arg26Trp) 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; Basal cell carcinoma, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs1408427240
- ClinGen CA374121470
- ClinVar RCV000802147
- ClinVar RCV001026729
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Basal cell carcinoma, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Basal cell carcinoma, s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)