L13P (p.Leu13Pro) variant of SLC26A4 (Pendrin)
L13P (p.Leu13Pro) 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 7-107661679-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.52
- MetaSVM -0.26
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available