R13C (p.Arg13Cys) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R13C (p.Arg13Cys) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Christianson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs1556614725
- ClinGen CA414606387
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- Likely benign
- Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.34
- MetaLR 0.09
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.38
- ClinVar: Likely benign (Christianson syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)