T65N (p.Thr65Asn) variant of ABCG5 (Q9H222)
T65N (p.Thr65Asn) in ABCG5 (Q9H222) is a missense change. 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.
T65N (p.Thr65Asn) variant details
- p.Thr65Asn
- ExAC rs773214529
- TOPMed rs773214529
- gnomAD rs773214529
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available