Q12E (p.Gln12Glu) variant of SLC26A4 (Pendrin)
Q12E (p.Gln12Glu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- gnomAD 7-107661675-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.42
- MetaSVM -0.54
- CADD 20.40
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available