P44P (p.Pro44Pro) variant of ABCG8 (Q9H221)
P44P (p.Pro44Pro) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P44P (p.Pro44Pro) variant details
- p.Pro44Pro
- gnomAD 2-43844575-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 7.46
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available