K40R (p.Lys40Arg) variant of SLC26A2 (Sulfate transporter)
K40R (p.Lys40Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- ExAC rs780672012
- gnomAD rs780672012
- Uncertain significance
- Achondrogenesis, type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Achondrogenesis, type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available