M88I (p.Met88Ile) variant of SLC26A2 (Sulfate transporter)
M88I (p.Met88Ile) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
M88I (p.Met88Ile) variant details
- p.Met88Ile
- rs1204157806
- ClinGen CA361704596
- ClinVar RCV002574154
- ClinVar RCV006451262
- Uncertain significance
- Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 5.49
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)