V26F (p.Val26Phe) variant of SLC26A4 (Pendrin)
V26F (p.Val26Phe) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V26F (p.Val26Phe) variant details
- p.Val26Phe
- gnomAD 7-107661717-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.72
- MetaSVM 0.36
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available