P11L (p.Pro11Leu) variant of SLC26A4 (Pendrin)
P11L (p.Pro11Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- gnomAD 7-107661673-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.41
- MetaSVM -0.57
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available