Q22* (p.Gln22Ter) variant of KCNE1 (P15382)
Q22* (p.Gln22Ter) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- gnomAD 21-34449571-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 27.20
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available