L15Q (p.Leu15Gln) variant of KCNH2 (hERG)
L15Q (p.Leu15Gln) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- rs794728418
- ClinGen CA008465
- ClinVar RCV000181954
- Ensembl rs794728418
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 80.1