F69L (p.Phe69Leu) variant of SLC26A2 (Sulfate transporter)
F69L (p.Phe69Leu) 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; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F69L (p.Phe69Leu) variant details
- p.Phe69Leu
- rs2480770420
- ClinGen CA361704366
- ClinVar RCV003008295
- Uncertain significance
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 6.62
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)