P11L (p.Pro11Leu) variant of KCNE1 (P15382)
P11L (p.Pro11Leu) in KCNE1 (P15382) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- cosmic curated COSV61606
- ExAC rs771981567
- gnomAD rs771981567
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07