T8A (p.Thr8Ala) variant of ABCG5 (Q9H222)
T8A (p.Thr8Ala) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- gnomAD rs1668439161
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 4.82
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available