G14S (p.Gly14Ser) variant of ABCG5 (Q9H222)
G14S (p.Gly14Ser) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- gnomAD rs1668437409
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 7.30
- PolyPhen-2 0.06
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available