L30L (p.Leu30Leu) variant of SLC26A4 (Pendrin)
L30L (p.Leu30Leu) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- gnomAD 7-107661731-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available