L13L (p.Leu13Leu) variant of SLC26A4 (Pendrin)
L13L (p.Leu13Leu) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- rs1562817215
- gnomAD 7-107661680-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available