L85P (p.Leu85Pro) variant of KCNQ2 (O43526)
L85P (p.Leu85Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; KCNQ2-Related Disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L85P (p.Leu85Pro) variant details
- p.Leu85Pro
- rs2082233689
- ClinGen CA409635062
- ClinVar RCV005401808
- ClinVar RCV006466053
- Conflicting interpretations
- Early-infantile DEE; KCNQ2-Related Disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.60
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; KCNQ2-Related Disorders)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available