Q33L (p.Gln33Leu) variant of SLC26A4 (Pendrin)
Q33L (p.Gln33Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q33L (p.Gln33Leu) variant details
- p.Gln33Leu
- gnomAD 7-107661739-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.24
- MetaSVM -0.77
- CADD 23.50
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available