A9S (p.Ala9Ser) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A9S (p.Ala9Ser) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Christianson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- rs201523857
- ClinGen CA414606364
- ClinVar RCV001331523
- UniProt VAR 087516
- Benign
- Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 13.00
- ClinVar: Benign (Christianson syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available
- Cited in: Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant. (PMID 31676550)
- Cited in: Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. (PMID 32277048)