N45S (p.Asn45Ser) variant of SLC26A2 (Sulfate transporter)
N45S (p.Asn45Ser) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diastrophic dysplasia; Atelosteogenesis type II; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- rs773892702
- ClinGen CA3505208
- ClinVar RCV001985050
- ExAC rs773892702
- Uncertain significance
- Diastrophic dysplasia; Atelosteogenesis type II; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Diastrophic dysplasia; Atelosteogenesis type II; Multiple epiphy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)