A7G (p.Ala7Gly) variant of PTCH1 (Protein patched homolog 1)
A7G (p.Ala7Gly) 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 Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs1564092028
- ClinGen CA374121705
- ClinVar RCV000701353
- ClinVar RCV003432744
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gorlin sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.3e-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)