Q32L (p.Gln32Leu) variant of SLC26A2 (Sulfate transporter)
Q32L (p.Gln32Leu) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Achondrogenesis, type IB; Multiple epiphyseal dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q32L (p.Gln32Leu) variant details
- p.Gln32Leu
- rs978424390
- ClinGen CA129082222
- ClinVar RCV003090900
- ClinVar RCV004071811
- Uncertain significance
- Inborn genetic diseases; Achondrogenesis, type IB; Multiple epiphyseal dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Achondrogenesis, type IB; Multiple epip)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)