N66K (p.Asn66Lys) variant of KCNJ5 (P48544)
N66K (p.Asn66Lys) in KCNJ5 (P48544) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N66K (p.Asn66Lys) variant details
- p.Asn66Lys
- ESP rs371347693
- ExAC rs371347693
- TOPMed rs371347693
- gnomAD rs371347693
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.67
- MetaLR 0.84
- MetaSVM 0.65
- CADD 19.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available