V56I (p.Val56Ile) variant of BBS1 (BBSome complex member BBS1)
V56I (p.Val56Ile) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BBS1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- ExAC rs766553514
- gnomAD rs766553514
- Uncertain significance
- BBS1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.50
- ClinVar: Uncertain significance (BBS1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available