P11S (p.Pro11Ser) variant of KCNE1 (P15382)
P11S (p.Pro11Ser) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- ExAC rs775325455
- gnomAD rs775325455
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 13.10
- PolyPhen-2 0.03
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07