R61L (p.Arg61Leu) variant of ABCG5 (Q9H222)
R61L (p.Arg61Leu) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R61L (p.Arg61Leu) variant details
- p.Arg61Leu
- ESP rs149599171
- ExAC rs149599171
- TOPMed rs149599171
- gnomAD rs149599171
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 6.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available