R400C (p.Arg400Cys) variant of SMO (Protein smoothened)
R400C (p.Arg400Cys) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital hypothalamic hamartoma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R400C (p.Arg400Cys) variant details
- p.Arg400Cys
- rs766211091
- ClinGen CA4479319
- ClinVar RCV001261988
- ExAC rs766211091
- Likely pathogenic
- Congenital hypothalamic hamartoma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.84
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital hypothalamic hamartoma syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available