H52del (p.His52del) variant of SLC26A2 (Sulfate transporter)
H52del (p.His52del) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H52del (p.His52del) variant details
- gnomAD 5-149977803-TATC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 3.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available