T36R (p.Thr36Arg) variant of PTCH1 (Protein patched homolog 1)
T36R (p.Thr36Arg) 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 Basal cell nevus syndrome 1; Hereditary cancer-predisposing syndrome; Gorlin syn. 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.
T36R (p.Thr36Arg) variant details
- p.Thr36Arg
- rs1449765833
- ClinGen CA374121414
- ClinVar RCV001051483
- ClinVar RCV002416388
- Conflicting interpretations
- Basal cell nevus syndrome 1; Hereditary cancer-predisposing syndrome; Gorlin syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.26
- CADD 16.30
- PolyPhen-2 0.20
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Basal cell nevus syndrome 1; Hereditary cancer-predisposing synd)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)