T16N (p.Thr16Asn) variant of ABCG8 (Q9H221)
T16N (p.Thr16Asn) in ABCG8 (Q9H221) 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, published literature, and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- gnomAD 2-43839100-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.74
- CADD 2.10
- PolyPhen-2 0.03
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available