N65D (p.Asn65Asp) variant of SLC26A2 (Sulfate transporter)
N65D (p.Asn65Asp) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Atelosteogenesis type II; Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N65D (p.Asn65Asp) variant details
- p.Asn65Asp
- rs755049614
- ClinGen CA3505217
- ClinVar RCV001418391
- ClinVar RCV002554073
- Conflicting interpretations
- not specified; Atelosteogenesis type II; Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 7.83
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (not specified; Atelosteogenesis type II; Diastrophic dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)