L13I (p.Leu13Ile) variant of SLC26A4 (Pendrin)
L13I (p.Leu13Ile) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- TOPMed rs866272794
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.33
- CADD 19.80
- Population evidence available
- Structural context available