A43D (p.Ala43Asp) variant of ABCG5 (Q9H222)
A43D (p.Ala43Asp) in ABCG5 (Q9H222) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- rs1181566629
- gnomAD rs1181566629
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 17.00
- PolyPhen-2 0.05
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available