K41N (p.Lys41Asn) variant of GJB2 (Gap junction beta-2 protein)
K41N (p.Lys41Asn) in GJB2 (Gap junction beta-2 protein) is a missense change. The record also includes variant effect predictions and structural context.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- cosmic curated COSV10124
- Missense
- MetaLR 0.78
- MetaSVM 0.33
- SIFT 0.05
- Structural context available