S28* (p.Ser28Ter) variant of KCNE1 (P15382)
S28* (p.Ser28Ter) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- gnomAD 21-34449552-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 32.00
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.27
- Literature evidence available