L483P (p.Leu483Pro) variant of SLC26A2 (Sulfate transporter)
L483P (p.Leu483Pro) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sulfate transporter-related osteochondrodysplasia; Diastrophic dysplasia; Achond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L483P (p.Leu483Pro) variant details
- p.Leu483Pro
- rs1755089566
- ClinGen CA361707892
- ClinVar RCV002510336
- ClinVar RCV004527447
- Pathogenic/Likely pathogenic
- Sulfate transporter-related osteochondrodysplasia; Diastrophic dysplasia; Achond
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Sulfate transporter-related osteochondrodysplasia; Diastrophic d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: Diastrophic Dysplasia. (PMID 20301524)