R26I (p.Arg26Ile) variant of ABCG8 (Q9H221)
R26I (p.Arg26Ile) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R26I (p.Arg26Ile) variant details
- p.Arg26Ile
- ExAC rs778043042
- gnomAD rs778043042
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.24
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available