G16R (p.Gly16Arg) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G16R (p.Gly16Arg) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Christianson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs2089319617
- ClinGen CA414606403
- ClinVar RCV003513405
- Uncertain significance
- Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -1.00
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.26
- ClinVar: Uncertain significance (Christianson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)