A9P (p.Ala9Pro) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A9P (p.Ala9Pro) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- rs201523857
- gnomAD X-135985527-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 15.80
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. (PMID 19471312)