D63G (p.Asp63Gly) variant of SLC26A2 (Sulfate transporter)
D63G (p.Asp63Gly) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- rs1755019690
- ClinGen CA361704300
- ClinVar RCV001090374
- Ensembl rs1755019690
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available