G45C (p.Gly45Cys) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G45C (p.Gly45Cys) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G45C (p.Gly45Cys) variant details
- p.Gly45Cys
- rs1556614763
- gnomAD X-135985635-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 20.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available