N43N (p.Asn43Asn) variant of KCNJ11 (Q14654)
N43N (p.Asn43Asn) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N43N (p.Asn43Asn) variant details
- p.Asn43Asn
- rs1344671029
- gnomAD 11-17387963-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 8.67
- Population evidence available
- Structural context available
- Literature evidence available