Q12L (p.Gln12Leu) variant of SLC26A4 (Pendrin)
Q12L (p.Gln12Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- gnomAD 7-107661676-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.54
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available