K46R (p.Lys46Arg) variant of BBS4 (BBSome complex member BBS4)
K46R (p.Lys46Arg) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- rs75295839
- ClinGen CA202441
- ClinVar RCV000177393
- ClinVar RCV000425800
- Conflicting interpretations
- not specified; not provided; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Bardet-Biedl syndrome)
- EBI: Benign (in dbSNP:rs75295839)
- UniProt: Benign (in dbSNP:rs75295839)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (PMID 15666242)
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)