F39L (p.Phe39Leu) variant of SLC26A2 (Sulfate transporter)
F39L (p.Phe39Leu) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- rs376023150
- ClinGen CA3505204
- ClinVar RCV002957958
- ClinVar RCV005483260
- Uncertain significance
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)