H665P (p.His665Pro) variant of SLC26A2 (Sulfate transporter)
H665P (p.His665Pro) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H665P (p.His665Pro) variant details
- p.His665Pro
- rs141798540
- ClinGen CA3505527
- ClinVar RCV000671750
- ClinVar RCV002531294
- Pathogenic/Likely pathogenic
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.64
- ESM-1b 0.87
- AlphaMissense 0.37
- CADD 13.80
- PolyPhen-2 0.33
- SIFT 0.17
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)