P13S (p.Pro13Ser) variant of BBS4 (BBSome complex member BBS4)
P13S (p.Pro13Ser) 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 Bardet-Biedl syndrome; Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs151164191
- ClinGen CA7646456
- ClinVar RCV000400282
- ClinVar RCV001094446
- Conflicting interpretations
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.85
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Bardet-Biedl syndrome; Bardet-Biedl syndrome 4)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)