P17S (p.Pro17Ser) variant of ABCG8 (Q9H221)
P17S (p.Pro17Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- TOPMed rs1668464670
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.14
- CADD 2.52
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available