G38V (p.Gly38Val) variant of PTCH1 (Protein patched homolog 1)
G38V (p.Gly38Val) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G38V (p.Gly38Val) variant details
- p.Gly38Val
- rs2538403705
- ClinGen CA2825001649
- ClinVar RCV004523043
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.21
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)