N27S (p.Asn27Ser) variant of KCNQ3 (O43525)
N27S (p.Asn27Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- rs1342457621
- ClinGen CA372292935
- ClinVar RCV001840916
- gnomAD rs1342457621
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available