N60I (p.Asn60Ile) variant of KCNJ2 (P63252)
N60I (p.Asn60Ile) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
N60I (p.Asn60Ile) variant details
- p.Asn60Ile
- gnomAD 17-70175218-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available