F66L (p.Phe66Leu) variant of SLC26A2 (Sulfate transporter)
F66L (p.Phe66Leu) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- rs200981220
- ClinGen CA3505218
- ClinVar RCV001434148
- ClinVar RCV001751765
- Conflicting interpretations
- Inborn genetic diseases; not provided; Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Diastrophic dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)