R34T (p.Arg34Thr) variant of PTCH1 (Protein patched homolog 1)
R34T (p.Arg34Thr) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. 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.
R34T (p.Arg34Thr) variant details
- p.Arg34Thr
- rs771847879
- ClinGen CA5139051
- ClinVar RCV000628397
- ClinVar RCV001009723
- Benign
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.23
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.48
- ClinVar: Benign (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9.7e-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)