G14S (p.Gly14Ser) variant of PTCH1 (Protein patched homolog 1)
G14S (p.Gly14Ser) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs1233426743
- ClinGen CA374121568
- ClinVar RCV000628335
- ClinVar RCV001021870
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.29
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gorlin sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)