Y48D (p.Tyr48Asp) variant of BBS4 (BBSome complex member BBS4)
Y48D (p.Tyr48Asp) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BBS4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y48D (p.Tyr48Asp) variant details
- p.Tyr48Asp
- gnomAD rs1373920809
- Uncertain significance
- BBS4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.68
- MetaLR 0.44
- MetaSVM -0.05
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (BBS4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available