K4Q (p.Lys4Gln) variant of ABCG8 (Q9H221)
K4Q (p.Lys4Gln) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- gnomAD 2-43832599-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 5.14
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available