V116L (p.Val116Leu) variant of BBS2 (BBSome complex member BBS2)
V116L (p.Val116Leu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V116L (p.Val116Leu) variant details
- p.Val116Leu
- gnomAD rs1351211010
- Uncertain significance
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.57
- CADD 23.30
- PolyPhen-2 0.25
- SIFT 0.08
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available