G5V (p.Gly5Val) variant of SLC26A4 (Pendrin)
G5V (p.Gly5Val) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 7-107661655-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM -0.41
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available