K53E (p.Lys53Glu) variant of BBS1 (BBSome complex member BBS1)
K53E (p.Lys53Glu) 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; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- rs766602837
- ClinGen CA6123263
- ClinVar RCV000540107
- ClinVar RCV001829577
- Uncertain significance
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.88
- CADD 33.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Bardet-Biedl syndrome 1)
- EBI: Pathogenic (in BBS1)
- UniProt: Pathogenic (in BBS1)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)