F30L (p.Phe30Leu) variant of GJA5 (Gap junction alpha-5 protein)
F30L (p.Phe30Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The record also includes variant effect predictions and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- TOPMed rs1226525363
- Missense
- MetaLR 0.97
- MetaSVM 1.10
- SIFT 0.00
- Structural context available