R51G (p.Arg51Gly) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R51G (p.Arg51Gly) in SLC9A6 (Sodium/hydrogen exchanger 6) 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 and published literature.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- gnomAD X-135985791-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 26.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Literature evidence available