N34K (p.Asn34Lys) variant of ABCG8 (Q9H221)
N34K (p.Asn34Lys) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- gnomAD 2-43844545-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.44
- MetaLR 0.60
- MetaSVM 0.10
- CADD 22.90
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available