V82L (p.Val82Leu) variant of BBS2 (BBSome complex member BBS2)
V82L (p.Val82Leu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V82L (p.Val82Leu) variant details
- p.Val82Leu
- ESP rs376883866
- ExAC rs376883866
- TOPMed rs376883866
- gnomAD rs376883866
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.22
- CADD 7.36
- PolyPhen-2 0.00
- SIFT 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available