R261C (p.Arg261Cys) variant of SMO (Protein smoothened)
R261C (p.Arg261Cys) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R261C (p.Arg261Cys) variant details
- p.Arg261Cys
- rs755698791
- ClinGen CA4479217
- NCI-TCGA Cosmic COSV5082
- ClinVar RCV001251440
- Pathogenic
- Congenital hypothalamic hamartoma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.93
- MetaLR 0.79
- MetaSVM 0.72
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital hypothalamic hamartoma syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)