P17del (p.Pro17del) variant of ABCG8 (Q9H221)
P17del (p.Pro17del) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P17del (p.Pro17del) variant details
- gnomAD 2-43839099-ACTC-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 5.83
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available