R36P (p.Arg36Pro) variant of KCNE1 (P15382)

Name: KCNE1 R36P (p.Arg36Pro) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

R36P (p.Arg36Pro) 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.

R36P (p.Arg36Pro) variant details

p.Arg36Pro
gnomAD 21-34449528-C-CG
Frameshift
Variant Prioritization Score for Impact Estimate 0.353
CADD 17.80
Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
Structural context available
Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
Literature evidence available