D33D (p.Asp33Asp) variant of ABCG8 (Q9H221)
D33D (p.Asp33Asp) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D33D (p.Asp33Asp) variant details
- p.Asp33Asp
- rs746154054
- gnomAD 2-43844542-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 10.30
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available