L69R (p.Leu69Arg) variant of ABCG5 (Q9H222)
L69R (p.Leu69Arg) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L69R (p.Leu69Arg) variant details
- p.Leu69Arg
- gnomAD rs1668383231
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available