I31V (p.Ile31Val) variant of BBS4 (BBSome complex member BBS4)
I31V (p.Ile31Val) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- rs113994182
- ClinGen CA342439
- ClinVar RCV000020947
- ExAC rs113994182
- Benign
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Benign (Bardet-Biedl syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-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)