I57V (p.Ile57Val) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
I57V (p.Ile57Val) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- gnomAD X-135985728-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.95
- Most common in the East Asian population (allele frequency 3.3e-05)
- Literature evidence available