R7M (p.Arg7Met) variant of SLC26A4 (Pendrin)
R7M (p.Arg7Met) 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, published literature, and structural context.
R7M (p.Arg7Met) variant details
- p.Arg7Met
- gnomAD 7-107661661-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.51
- MetaSVM -0.36
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available