H12R (p.His12Arg) variant of BBS2 (BBSome complex member BBS2)
H12R (p.His12Arg) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H12R (p.His12Arg) variant details
- p.His12Arg
- rs1238233777
- ClinGen CA395988240
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55328
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.73
- CADD 28.30
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)