Y16F (p.Tyr16Phe) variant of SLC26A4 (Pendrin)
Y16F (p.Tyr16Phe) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y16F (p.Tyr16Phe) variant details
- p.Tyr16Phe
- gnomAD 7-107661688-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.69
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available