Q12K (p.Gln12Lys) variant of SLC26A4 (Pendrin)
Q12K (p.Gln12Lys) 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.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- gnomAD 7-107661675-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.38
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available