M21K (p.Met21Lys) variant of SLC26A4 (Pendrin)
M21K (p.Met21Lys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M21K (p.Met21Lys) variant details
- p.Met21Lys
- gnomAD 7-107661703-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.25
- ESM-1b 0.27
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.64
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available