R576Q (p.Arg576Gln) variant of SMO (Protein smoothened)
R576Q (p.Arg576Gln) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital hypothalamic hamartoma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R576Q (p.Arg576Gln) variant details
- p.Arg576Gln
- rs577512487
- ClinGen CA4479472
- ClinVar RCV001251442
- 1000Genomes rs577512487
- Pathogenic
- Congenital hypothalamic hamartoma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.71
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic (Congenital hypothalamic hamartoma syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog… (PMID 32413283)