T36P (p.Thr36Pro) variant of PTCH1 (Protein patched homolog 1)
T36P (p.Thr36Pro) 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 Gorlin syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T36P (p.Thr36Pro) variant details
- p.Thr36Pro
- rs1843898216
- ClinGen CA374121418
- ClinVar RCV001320551
- ClinVar RCV006274189
- Uncertain significance
- Gorlin syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.29
- CADD 17.20
- PolyPhen-2 0.16
- SIFT 0.15
- ClinVar: Uncertain significance (Gorlin syndrome; not specified)
- 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)