N45T (p.Asn45Thr) variant of KCNE2 (Q9Y6J6)
N45T (p.Asn45Thr) in KCNE2 (Q9Y6J6) is a protein-truncating 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.
N45T (p.Asn45Thr) variant details
- p.Asn45Thr
- gnomAD 21-34370609-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 28.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available