G6R (p.Gly6Arg) variant of SLC26A4 (Pendrin)
G6R (p.Gly6Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD 7-107661657-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.46
- MetaSVM -0.49
- CADD 6.75
- Population evidence available
- Structural context available
- Literature evidence available