N77H (p.Asn77His) variant of SLC26A2 (Sulfate transporter)
N77H (p.Asn77His) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Diastrophic dysp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N77H (p.Asn77His) variant details
- p.Asn77His
- rs76784312
- ClinGen CA3505223
- ClinVar RCV000398136
- ClinVar RCV000539759
- Conflicting interpretations
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Diastrophic dysp
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.09)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)