A2D (p.Ala2Asp) variant of ABCG8 (Q9H221)
A2D (p.Ala2Asp) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 2-43839058-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- MetaLR 0.61
- MetaSVM 0.16
- CADD 22.60
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available