M1V (p.Met1Val) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
M1V (p.Met1Val) 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 not provided; Christianson syndrome; Neurodevelopmental disorder. 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs782640388
- ClinGen CA414606320
- ClinVar RCV001058825
- ClinVar RCV001374987
- Uncertain significance
- not provided; Christianson syndrome; Neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.83
- ClinVar: Uncertain significance (not provided; Christianson syndrome; Neurodevelopmental disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)