I57L (p.Ile57Leu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
I57L (p.Ile57Leu) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
I57L (p.Ile57Leu) variant details
- p.Ile57Leu
- rs1342307092
- gnomAD X-135985764-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 26.20
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Literature evidence available