G5C (p.Gly5Cys) variant of SLC26A4 (Pendrin)
G5C (p.Gly5Cys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- cosmic curated COSV10721
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.33
- ESM-1b 0.54
- AlphaMissense 0.15
- MetaLR 0.49
- MetaSVM -0.38
- CADD 22.20
- Population evidence available
- Structural context available