Q33H (p.Gln33His) variant of SLC26A4 (Pendrin)
Q33H (p.Gln33His) in SLC26A4 (Pendrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- gnomAD rs967911628
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.28
- MetaSVM -0.63
- CADD 23.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available