L107P (p.Leu107Pro) variant of KCNQ2 (O43526)
L107P (p.Leu107Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- rs1555874569
- ClinGen CA409656518
- ClinVar RCV000512780
- Ensembl rs1555874569
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available