H51R (p.His51Arg) variant of BBS2 (BBSome complex member BBS2)
H51R (p.His51Arg) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- rs1964682368
- ClinGen CA395986298
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55329
- Uncertain significance
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.20
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)