S71G (p.Ser71Gly) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
S71G (p.Ser71Gly) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Christianson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1.
S71G (p.Ser71Gly) variant details
- p.Ser71Gly
- rs2089324047
- ClinGen CA414606761
- ClinVar RCV002283328
- Conflicting interpretations
- not provided; Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.98
- MetaLR 0.32
- MetaSVM -0.40
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Conflicting classifications of pathogenicity (not provided; Christianson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic