L11P (p.Leu11Pro) variant of ABCG8 (Q9H221)
L11P (p.Leu11Pro) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs2104868661
- gnomAD 2-43832597-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 10.50
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available