M21I (p.Met21Ile) variant of SLC26A4 (Pendrin)
M21I (p.Met21Ile) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- gnomAD rs1790557853
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.38
- CADD 18.60
- Population evidence available
- Structural context available