G305S (p.Gly305Ser) variant of BBS1 (BBSome complex member BBS1)
G305S (p.Gly305Ser) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G305S (p.Gly305Ser) variant details
- p.Gly305Ser
- rs942862410
- ClinGen CA224077108
- ClinVar RCV003388220
- UniProt VAR 038884
- Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.48
- CADD 29.20
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Pathogenic (in BBS1)
- UniProt: Pathogenic (in BBS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)