A386G (p.Ala386Gly) variant of SLC26A2 (Sulfate transporter)
A386G (p.Ala386Gly) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A386G (p.Ala386Gly) variant details
- p.Ala386Gly
- rs386833493
- ClinGen CA3505393
- ClinVar RCV001977395
- ExAC rs386833493
- Likely pathogenic
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.79
- ESM-1b 0.36
- AlphaMissense 0.15
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)