P12R (p.Pro12Arg) variant of ABCG8 (Q9H221)
P12R (p.Pro12Arg) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs1203870654
- gnomAD 2-43832603-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 1.04
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available