V43M (p.Val43Met) variant of KCNQ3 (O43525)
V43M (p.Val43Met) 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 0.45 / 1. The record also includes population frequency data and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs794726918
- ClinGen CA238796
- ClinVar RCV000173345
- Ensembl rs794726918
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available