N61K (p.Asn61Lys) variant of KCNJ5 (P48544)
N61K (p.Asn61Lys) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N61K (p.Asn61Lys) variant details
- p.Asn61Lys
- gnomAD 11-128911456-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 0.99
- CADD 20.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available