G508D (p.Gly508Asp) variant of SMAD4 (SMAD family member 4)
G508D (p.Gly508Asp) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized juvenile polyposis/juvenile polyposis coli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G508D (p.Gly508Asp) variant details
- p.Gly508Asp
- rs1555687572
- ClinGen CA402465936
- cosmic curated COSV61685
- ClinVar RCV000664319
- Likely pathogenic
- Generalized juvenile polyposis/juvenile polyposis coli
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.98
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Generalized juvenile polyposis/juvenile polyposis coli)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)