N54N (p.Asn54Asn) variant of GJB2 (Gap junction beta-2 protein)
N54N (p.Asn54Asn) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N54N (p.Asn54Asn) variant details
- p.Asn54Asn
- rs104894412
- gnomAD 13-20189420-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- CADD 7.23
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available