Q33K (p.Gln33Lys) variant of SLC26A4 (Pendrin)
Q33K (p.Gln33Lys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- gnomAD 7-107661738-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.27
- MetaSVM -0.76
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available