S37R (p.Ser37Arg) variant of KCNE1 (P15382)
S37R (p.Ser37Arg) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- gnomAD 21-34449523-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0683
- CADD 0.00
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.26
- Literature evidence available