G22P (p.Gly22Pro) variant of ABCG8 (Q9H221)
G22P (p.Gly22Pro) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G22P (p.Gly22Pro) variant details
- p.Gly22Pro
- gnomAD 2-43839103-C-CCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available