L30L (p.Leu30Leu) variant of KCNE1 (P15382)

Name: KCNE1 L30L (p.Leu30Leu) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

L30L (p.Leu30Leu) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.

L30L (p.Leu30Leu) variant details

p.Leu30Leu
gnomAD 21-34449545-C-A
Synonymous
Variant Prioritization Score for Impact Estimate 0.473
CADD 9.13
Population evidence available
Structural context available
Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.13
Literature evidence available