L57V (p.Leu57Val) variant of KCNQ3 (O43525)
L57V (p.Leu57Val) in KCNQ3 (O43525) 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 0.70 / 1. The record also includes structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- rs1822520331
- ClinGen CA372292756
- ClinVar RCV003329669
- TOPMed rs1822520331
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.07
- MetaLR 0.91
- MetaSVM 0.89
- PolyPhen-2 0.99
- SIFT 0.96
- MutPred 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available