L307R (p.Leu307Arg) variant of KCNQ2 (O43526)
L307R (p.Leu307Arg) 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 0.80 / 1. The record also includes population frequency data and structural context.
L307R (p.Leu307Arg) variant details
- p.Leu307Arg
- rs2516418487
- ClinGen CA409652451
- ClinVar RCV006558880
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available