R36L (p.Arg36Leu) variant of KCNE1 (P15382)
R36L (p.Arg36Leu) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- gnomAD 21-34449528-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.01
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
- Literature evidence available