H9D (p.His9Asp) variant of SLC26A2 (Sulfate transporter)
H9D (p.His9Asp) 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; Inborn genetic diseases; Atelosteogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H9D (p.His9Asp) variant details
- p.His9Asp
- rs151076648
- ClinGen CA3505188
- ClinVar RCV002771439
- ClinVar RCV002805845
- Uncertain significance
- not provided; Inborn genetic diseases; Atelosteogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 5.92
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Atelosteogenesis type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)