A4S (p.Ala4Ser) variant of BBS1 (BBSome complex member BBS1)
A4S (p.Ala4Ser) 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 BBS1-related disorder; Inborn genetic diseases; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs745375133
- ClinGen CA6123178
- ClinVar RCV001883574
- ClinVar RCV002482621
- Uncertain significance
- BBS1-related disorder; Inborn genetic diseases; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.21
- CADD 5.67
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (BBS1-related disorder; Inborn genetic diseases; Bardet-Biedl syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)