L45P (p.Leu45Pro) variant of KCNE1 (P15382)
L45P (p.Leu45Pro) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- gnomAD 21-34449501-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 32.00
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.41
- Literature evidence available