P134S (p.Pro134Ser) variant of BBS2 (BBSome complex member BBS2)
P134S (p.Pro134Ser) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P134S (p.Pro134Ser) variant details
- p.Pro134Ser
- rs1275057392
- ClinGen CA395984445
- cosmic curated COSV10455
- ClinVar RCV001952587
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance (in RP74)
- UniProt: Uncertain significance (in RP74)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)