N59D (p.Asn59Asp) variant of KCNJ3 (P48549)
N59D (p.Asn59Asp) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N59D (p.Asn59Asp) variant details
- p.Asn59Asp
- gnomAD 2-154698950-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- CADD 29.20
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available