N10D (p.Asn10Asp) variant of SLC26A2 (Sulfate transporter)
N10D (p.Asn10Asp) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N10D (p.Asn10Asp) variant details
- p.Asn10Asp
- Ensembl rs2113695454
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available