V135L (p.Val135Leu) variant of KCNQ2 (O43526)
V135L (p.Val135Leu) 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 0.78 / 1. The record also includes population frequency data and structural context.
V135L (p.Val135Leu) variant details
- p.Val135Leu
- rs775649577
- ExAC rs775649577
- gnomAD rs775649577
- ClinGen CA409655578
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.80
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- 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