G58V (p.Gly58Val) variant of KCNQ3 (O43525)
G58V (p.Gly58Val) 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 0.61 / 1. The record also includes population frequency data and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- rs1822520136
- ClinGen CA372292746
- ClinVar RCV001560569
- Ensembl rs1822520136
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.49
- AlphaMissense 0.17
- MetaLR 0.89
- MetaSVM 0.87
- CADD 26.00
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available