G37R (p.Gly37Arg) variant of PTCH1 (Protein patched homolog 1)
G37R (p.Gly37Arg) 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; Hereditary cancer-predisposing 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.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- rs199976372
- ClinGen CA5139048
- ClinVar RCV000228192
- ClinVar RCV000328380
- Uncertain significance
- Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.25
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Gorlin syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAUR population (allele frequency 0.17)
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)