M1R (p.Met1Arg) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
M1R (p.Met1Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1006154022
- ClinGen CA16608696
- ClinVar RCV000433846
- ClinVar RCV001507050
- Uncertain significance
- Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- MetaLR 0.15
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.86
- ClinVar: Uncertain significance (Christianson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)