R13L (p.Arg13Leu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R13L (p.Arg13Leu) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- gnomAD X-135985540-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available