L40P (p.Leu40Pro) variant of KCNQ2 (O43526)
L40P (p.Leu40Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- rs2082237607
- ClinGen CA409635635
- ClinVar RCV006464854
- Ensembl rs2082237607
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.64
- CADD 26.70
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available