Q18R (p.Gln18Arg) variant of KCNE1 (P15382)
Q18R (p.Gln18Arg) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- gnomAD 21-34449582-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.05
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.44
- Literature evidence available