P12A (p.Pro12Ala) variant of ABCG8 (Q9H221)
P12A (p.Pro12Ala) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- rs1668019979
- gnomAD 2-43832602-C-CCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 15.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available