Y75H (p.Tyr75His) variant of ABCG5 (Q9H222)
Y75H (p.Tyr75His) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y75H (p.Tyr75His) variant details
- p.Tyr75His
- gnomAD rs1282693864
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available