P9T (p.Pro9Thr) variant of ABCG5 (Q9H222)
P9T (p.Pro9Thr) 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 0.55 / 1. The record also includes population frequency data and structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- rs1301882747
- ClinGen CA346662153
- ClinVar RCV002426223
- TOPMed rs1301882747
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 4.92
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available