T20N (p.Thr20Asn) variant of ABCG8 (Q9H221)
T20N (p.Thr20Asn) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T20N (p.Thr20Asn) variant details
- p.Thr20Asn
- gnomAD 2-43839112-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.10
- MetaLR 0.32
- MetaSVM -0.77
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available