L101H (p.Leu101His) variant of KCNQ2 (O43526)
L101H (p.Leu101His) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L101H (p.Leu101His) variant details
- p.Leu101His
- rs2081442073
- ClinGen CA409656576
- ClinVar RCV006465854
- Ensembl rs2081442073
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available