K13N (p.Lys13Asn) variant of ABCG8 (Q9H221)
K13N (p.Lys13Asn) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- gnomAD 2-43839092-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.71
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available