N5N (p.Asn5Asn) variant of KCNE1 (P15382)
N5N (p.Asn5Asn) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N5N (p.Asn5Asn) variant details
- p.Asn5Asn
- gnomAD 21-34449620-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.31
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 0.916
- Literature evidence available