P29L (p.Pro29Leu) variant of BBS2 (BBSome complex member BBS2)
P29L (p.Pro29Leu) 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 2; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs771211831
- ClinGen CA8066146
- cosmic curated COSV55327
- ClinVar RCV000666462
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.45
- CADD 24.80
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)