L20V (p.Leu20Val) variant of KCNQ2 (O43526)
L20V (p.Leu20Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- rs868492349
- ClinGen CA317423930
- ClinVar RCV006468679
- TOPMed rs868492349
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available