K79N (p.Lys79Asn) variant of CHRNA4 (P43681)
K79N (p.Lys79Asn) in CHRNA4 (P43681) 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 0.65 / 1. The record also includes population frequency data.
K79N (p.Lys79Asn) variant details
- p.Lys79Asn
- ExAC rs747023127
- gnomAD rs747023127
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.74
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available