L483F (p.Leu483Phe) variant of SLC26A2 (Sulfate transporter)
L483F (p.Leu483Phe) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L483F (p.Leu483Phe) variant details
- p.Leu483Phe
- rs2480776021
- ClinGen CA361707890
- ClinVar RCV003104896
- Uncertain significance
- Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- ESM-1b 1.00
- AlphaMissense 0.87
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)