I21L (p.Ile21Leu) variant of PTCH1 (Protein patched homolog 1)
I21L (p.Ile21Leu) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I21L (p.Ile21Leu) variant details
- p.Ile21Leu
- rs756724967
- ClinGen CA5139064
- ClinVar RCV000458640
- ClinVar RCV001024995
- Benign
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.24
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.0002)
- 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)