R576W (p.Arg576Trp) variant of SMO (Protein smoothened)
R576W (p.Arg576Trp) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R576W (p.Arg576Trp) variant details
- p.Arg576Trp
- rs767688088
- ClinGen CA4479471
- ClinVar RCV001251443
- ExAC rs767688088
- Pathogenic
- Congenital hypothalamic hamartoma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.64
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Congenital hypothalamic hamartoma syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)