N18S (p.Asn18Ser) variant of ABCG5 (Q9H222)
N18S (p.Asn18Ser) in ABCG5 (Q9H222) 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.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- ExAC rs769836264
- gnomAD rs769836264
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 2.91
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available