N62S (p.Asn62Ser) variant of GJB6 (Gap junction beta-6 protein)
N62S (p.Asn62Ser) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- cosmic curated COSV10727
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 21.80
- PolyPhen-2 0.38
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)