N27K (p.Asn27Lys) variant of KCNQ3 (O43525)
N27K (p.Asn27Lys) in KCNQ3 (O43525) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- TOPMed rs1271630840
- gnomAD rs1271630840
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.30
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available