W505R (p.Trp505Arg) variant of SLC26A2 (Sulfate transporter)
W505R (p.Trp505Arg) 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; Atelosteogenesis type II; Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
W505R (p.Trp505Arg) variant details
- p.Trp505Arg
- rs2113698845
- ClinGen CA361708020
- ClinVar RCV001881354
- Ensembl rs2113698845
- Likely pathogenic
- Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- ESM-1b 1.00
- AlphaMissense 0.81
- MutPred 0.86
- ClinVar: Likely pathogenic (Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)