Q12Q (p.Gln12Gln) variant of SLC26A4 (Pendrin)
Q12Q (p.Gln12Gln) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- gnomAD 7-107661677-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 19.70
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available