I84V (p.Ile84Val) variant of ABCG5 (Q9H222)
I84V (p.Ile84Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I84V (p.Ile84Val) variant details
- p.Ile84Val
- TOPMed rs1418182935
- gnomAD rs1418182935
- Uncertain significance
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- CADD 25.10
- ClinVar: Uncertain significance (Sitosterolemia)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available