G6D (p.Gly6Asp) variant of SLC26A4 (Pendrin)
G6D (p.Gly6Asp) 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, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 7-107661658-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.34
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available