S28W (p.Ser28Trp) variant of KCNE1 (P15382)
S28W (p.Ser28Trp) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28W (p.Ser28Trp) variant details
- p.Ser28Trp
- gnomAD 21-34449550-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.27
- Literature evidence available