N14I (p.Asn14Ile) variant of GJB6 (Gap junction beta-6 protein)
N14I (p.Asn14Ile) 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.
N14I (p.Asn14Ile) variant details
- p.Asn14Ile
- ExAC rs755769938
- gnomAD rs755769938
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)