S35G (p.Ser35Gly) variant of ABCG8 (Q9H221)
S35G (p.Ser35Gly) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S35G (p.Ser35Gly) variant details
- p.Ser35Gly
- gnomAD rs1462924756
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.53
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available