L128W (p.Leu128Trp) variant of BBS2 (BBSome complex member BBS2)
L128W (p.Leu128Trp) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L128W (p.Leu128Trp) variant details
- p.Leu128Trp
- Ensembl rs1964568798
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.84
- AlphaMissense 0.51
- MetaLR 0.77
- MetaSVM 0.68
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available