G14D (p.Gly14Asp) variant of ABCG5 (Q9H222)
G14D (p.Gly14Asp) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD rs1166674418
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 1.53
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available