N14D (p.Asn14Asp) variant of GJB6 (Gap junction beta-6 protein)
N14D (p.Asn14Asp) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- gnomAD rs1257563596
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)