S18G (p.Ser18Gly) variant of PTCH1 (Protein patched homolog 1)
S18G (p.Ser18Gly) 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 Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- rs1199437529
- ClinGen CA374121512
- ClinVar RCV000817190
- ClinVar RCV001023886
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.29
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 7e-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)