P21S (p.Pro21Ser) variant of BBS4 (BBSome complex member BBS4)
P21S (p.Pro21Ser) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs916749492
- ClinGen CA272620932
- ClinVar RCV001340067
- TOPMed rs916749492
- Uncertain significance
- Inborn genetic diseases; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.06
- CADD 7.38
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)