P11T (p.Pro11Thr) variant of SLC26A4 (Pendrin)
P11T (p.Pro11Thr) 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 and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- gnomAD rs1249173005
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.43
- CADD 21.10
- Population evidence available
- Structural context available