P12P (p.Pro12Pro) variant of ABCG8 (Q9H221)
P12P (p.Pro12Pro) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- rs923318288
- gnomAD 2-43832604-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0878
- CADD 1.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available