R53K (p.Arg53Lys) variant of SLC26A2 (Sulfate transporter)
R53K (p.Arg53Lys) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Diastrophic dysplas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R53K (p.Arg53Lys) variant details
- p.Arg53Lys
- ExAC rs774585651
- gnomAD rs774585651
- Uncertain significance
- SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Diastrophic dysplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.20
- PolyPhen-2 0.09
- SIFT 0.26
- ClinVar: Uncertain significance (SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Dia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available