G31R (p.Gly31Arg) variant of PTCH1 (Protein patched homolog 1)
G31R (p.Gly31Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary cancer-predisposing syndrome; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs768512190
- ClinGen CA5139053
- ClinVar RCV000575799
- ClinVar RCV000628426
- Conflicting interpretations
- not specified; Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary cancer-predisposing syndrome; Gorlin s)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)