K67Q (p.Lys67Gln) variant of SLC26A2 (Sulfate transporter)
K67Q (p.Lys67Gln) 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; Diastrophic dysp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K67Q (p.Lys67Gln) variant details
- p.Lys67Gln
- rs766241120
- ClinGen CA361704338
- ClinVar RCV002720866
- Uncertain significance
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Diastrophic dysp
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.40
- ESM-1b 0.02
- AlphaMissense 0.10
- CADD 20.20
- PolyPhen-2 0.29
- SIFT 0.13
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)