P17P (p.Pro17Pro) variant of ABCG8 (Q9H221)
P17P (p.Pro17Pro) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P17P (p.Pro17Pro) variant details
- p.Pro17Pro
- rs72647316
- gnomAD 2-43839104-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 4.70
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available