H35R (p.His35Arg) variant of BBS1 (BBSome complex member BBS1)
H35R (p.His35Arg) in BBS1 (BBSome complex member BBS1) 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.
H35R (p.His35Arg) variant details
- p.His35Arg
- rs775990952
- ClinGen CA6123237
- ClinVar RCV001941125
- UniProt VAR 038880
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.79
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.19
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Pathogenic (in BBS1)
- UniProt: Pathogenic (in BBS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (PMID 12677556)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)