L46P (p.Leu46Pro) variant of KCNA1 (Q09470)
L46P (p.Leu46Pro) in KCNA1 (Q09470) 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 0.72 / 1. The record also includes structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs2137672826
- ClinGen CA383453880
- ClinVar RCV001552468
- Ensembl rs2137672826
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- MutPred 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available