W6R (p.Trp6Arg) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
W6R (p.Trp6Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
W6R (p.Trp6Arg) variant details
- p.Trp6Arg
- rs2521062188
- ClinGen CA414606348
- ClinVar RCV003319789
- ClinVar RCV005102887
- Uncertain significance
- not provided; Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 21.50
- ClinVar: Uncertain significance (not provided; Christianson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)