A50G (p.Ala50Gly) variant of BBS4 (BBSome complex member BBS4)
A50G (p.Ala50Gly) in BBS4 (BBSome complex member BBS4) 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 0.30 / 1. The record also includes population frequency data and structural context.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- gnomAD rs1352701769
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.99
- CADD 19.90
- PolyPhen-2 0.10
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available