G31E (p.Gly31Glu) variant of PTCH1 (Protein patched homolog 1)
G31E (p.Gly31Glu) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- rs1329331221
- ClinGen CA374121440
- ClinVar RCV001019134
- ClinVar RCV001360062
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.24
- CADD 18.00
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; Gorlin syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-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)