P4L (p.Pro4Leu) variant of SLC26A4 (Pendrin)
P4L (p.Pro4Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD rs1437380751
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.50
- MetaSVM -0.21
- CADD 22.50
- Population evidence available
- Structural context available