G39S (p.Gly39Ser) variant of ABCG5 (Q9H222)
G39S (p.Gly39Ser) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- gnomAD rs1159565661
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 2.94
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available