H16Q (p.His16Gln) variant of GJB2 (Gap junction beta-2 protein)
H16Q (p.His16Gln) in GJB2 (Gap junction beta-2 protein) is a missense change. The record also includes variant effect predictions and structural context.
H16Q (p.His16Gln) variant details
- p.His16Gln
- cosmic curated COSV10124
- Missense
- MetaLR 0.97
- MetaSVM 1.11
- SIFT 0.00
- Structural context available