P12Q (p.Pro12Gln) variant of ABCG8 (Q9H221)
P12Q (p.Pro12Gln) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- gnomAD 2-43832609-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 0.51
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available