S48R (p.Ser48Arg) variant of ABCG5 (Q9H222)
S48R (p.Ser48Arg) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S48R (p.Ser48Arg) variant details
- p.Ser48Arg
- gnomAD rs1182768861
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 15.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available