A4G (p.Ala4Gly) variant of PTCH1 (Protein patched homolog 1)
A4G (p.Ala4Gly) 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; 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.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- rs540045689
- ClinGen CA16612694
- ClinVar RCV000463891
- ClinVar RCV001169520
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.33
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.005)
- 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)