N80K (p.Asn80Lys) variant of CHRNA4 (P43681)
N80K (p.Asn80Lys) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHRNA4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
N80K (p.Asn80Lys) variant details
- p.Asn80Lys
- rs2516563968
- ClinGen CA409641504
- ClinVar RCV003397747
- Uncertain significance
- CHRNA4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.74
- CADD 25.10
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (CHRNA4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available