N62K (p.Asn62Lys) variant of GJB2 (Gap junction beta-2 protein)
N62K (p.Asn62Lys) in GJB2 (Gap junction beta-2 protein) 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 0.58 / 1. The record also includes population frequency data and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- ExAC rs397516869
- TOPMed rs397516869
- gnomAD rs397516869
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.79
- MetaLR 0.98
- MetaSVM 1.11
- CADD 6.03
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available