K4N (p.Lys4Asn) variant of ABCG8 (Q9H221)
K4N (p.Lys4Asn) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD 2-43839065-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.12
- MetaLR 0.43
- MetaSVM -0.50
- CADD 8.08
- PolyPhen-2 0.04
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available