I21V (p.Ile21Val) variant of PTCH1 (Protein patched homolog 1)
I21V (p.Ile21Val) 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 Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- rs756724967
- ClinGen CA374121494
- ClinVar RCV001916535
- ExAC rs756724967
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.20
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)