L24F (p.Leu24Phe) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
L24F (p.Leu24Phe) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- rs2148129457
- ClinGen CA414606454
- ClinVar RCV001975690
- ClinVar RCV003128838
- Uncertain significance
- not provided; Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 6.58
- ClinVar: Uncertain significance (not provided; Christianson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)