L30R (p.Leu30Arg) variant of KCNE1 (P15382)
L30R (p.Leu30Arg) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- gnomAD 21-34449546-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.20
- PolyPhen-2 0.57
- SIFT 0.04
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.13
- Literature evidence available